Full Text Journal Articles by
Author Lionel Van Maldergem

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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

Juliette Piard, Matthieu Béreau, Wenshu XiangWei, Thomas Wirth, Daniel Amsallem, Lauren Buisson, Philippe Richard, Nana Liu, Yuchen Xu, Scott J Myers, Stephen F Traynelis, Jameleddine Chelly, Mathieu Anheim, Martine Raynaud, Lionel Van Maldergem, Hongjie Yuan,

BACKGROUND:Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder, sleep disturbances, and epilepsy in males. OBJECTIVE:To describe a new and consistent phenotype in 4 affected male patients associated with an ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2020, :]

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Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.

Margaux Serey-Gaut, Marcello Scala, Bruno Reversade, Lyse Ruaud, Christelle Cabrol, Francesco Musacchia, Annalaura Torella, Andrea Accogli, Nathalie Escande-Beillard, Jean Langlais, Gianluca Piatelli, Alessandro Consales, Vincenzo Nigro, Valeria Capra, Lionel Van Maldergem,

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel-Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development. To date, only ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(6):1466-1472]

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A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

Emilien Faudi, Elise Brischoux-Boucher, Céline Huber, Thibaud Dabudyk, Marion Lenoir, Geneviève Baujat, Caroline Michot, Lionel Van Maldergem, Valérie Cormier-Daire, Juliette Piard,

A narrow thorax with shortening of long bones is usually pointing to dysfunction of the primary cilia corresponding clinically to ciliopathies with major skeletal involvement. Mutations in at least 23 genes are likely to correspond to this clinical presentation: IFT43/52/80/81/122/140/172, WDR19/34/35/60, DYNC2H1, DYNC2LI1, CEP120, NEK1, TTC21B, TCTEX1D2, INTU, TCTN3, EVC ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(4):103823]

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Split hand/foot malformation associated with 20p12.1 deletion: A case report.

Lyse Ruaud, Ricarda Flöttmann, Malte Spielmann, Fabienne Escande, Lionel Van Maldergem, Stefan Mundlos, Juliette Piard,

Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated malformations is highly variable and multiple syndromes with ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(4):103805]

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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Philip J Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza-Meireles, Marta Bertoli, John Dean, Andrew G L Douglas, Ian Ellis, Alison Foster, John M Graham, Jennifer Hague, Yvonne Hilhorst-Hofstee, Mariette Hoffer, Diana Johnson, Dragana Josifova, Sarina G Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine Nathanson, Charlotte W Ockeloen, Michael J Parker, Tyler M Pierson, Elisa Rahikkala, Pedro A Sanchez-Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton-Brown,

CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely pathogenic CHD8 variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, p < .01). All ... Read more >>

Am J Med Genet C Semin Med Genet (American journal of medical genetics. Part C, Seminars in medical genetics)
[2019, 181(4):557-564]

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Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.

Alonso Cárdenas-de-la-Parra, Sandra Martin-Brevet, Clara Moreau, Borja Rodriguez-Herreros, Vladimir S Fonov, Anne M Maillard, Nicole R Zürcher, , Nouchine Hadjikhani, Jacques S Beckmann, Alexandre Reymond, Bogdan Draganski, Sébastien Jacquemont, D Louis Collins,

Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11.2 copy number variants (breakpoint 4-5) confer high risk for neurodevelopmental disorders ... Read more >>

Neuroimage (NeuroImage)
[2019, 203:116155]

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Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins Ii, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert,

In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper. ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(8):1894-1895]

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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

Ken McElreavey, Anne Jorgensen, Caroline Eozenou, Tiphanie Merel, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Denis Houzelstein, Federica Buonocore, Nick Warr, Raissa G G Kay, Matthieu Peycelon, Jean-Pierre Siffroi, Inas Mazen, John C Achermann, Yuliya Shcherbak, Juliane Leger, Agnes Sallai, Jean-Claude Carel, Laetitia Martinerie, Romain Le Ru, Gerard S Conway, Brigitte Mignot, Lionel Van Maldergem, Rita Bertalan, Evgenia Globa, Raja Brauner, Ralf Jauch, Serge Nef, Andy Greenfield, Anu Bashamboo,

PURPOSE:XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. METHODS:We performed exome ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(1):150-159]

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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

Flavie Ader, Pascal De Groote, Patricia Réant, Caroline Rooryck-Thambo, Delphine Dupin-Deguine, Caroline Rambaud, Diala Khraiche, Claire Perret, Jean François Pruny, Michèle Mathieu-Dramard, Marion Gérard, Yann Troadec, Laurent Gouya, Xavier Jeunemaitre, Lionel Van Maldergem, Albert Hagège, Eric Villard, Philippe Charron, Pascale Richard,

Pathogenic variants in FLNC encoding filamin C have been firstly reported to cause myopathies, and were recently linked to isolated cardiac phenotypes. Our aim was to estimate the prevalence of FLNC pathogenic variants in subtypes of cardiomyopathies and to study the relations between phenotype and genotype. DNAs from a cohort ... Read more >>

Clin. Genet. (Clinical genetics)
[2019, 96(4):317-329]

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Vincenzo Salpietro, Christine L Dixon, Hui Guo, Oscar D Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G Monaghan, Teresa Santiago-Sim, Richard E Person, Megan T Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M Motazacker, Bregje Jaeger, Amy L Schneider, Katja Boysen, Alison M Muir, Candace T Myers, Ralitza H Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, , Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C Mefford, Ingrid E Scheffer, Jill Clayton-Smith, Alfons Macaya, James E Rothman, Evan E Eichler, Dimitri M Kullmann, Henry Houlden,

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous ... Read more >>

Nat Commun (Nature communications)
[2019, 10(1):3094]

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Brett V Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bézieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A Koolen, Peter M VanHasselt, Marjan Weiss, Petra Zwijnenburg, Joaquim Sa, Claudia Falcao Reis, Carlos López-Otín, Olaya Santiago-Fernández, Alberto Fernández-Jaén, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan-Khetarpal, Elena Infante, Elaine Zackai, Carey Mcdougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek-Andrews, Loren Pena, Vandana Shashi, , Kelly Schoch, Jennifer A Sullivan, Filippo Pinto E Vairo, Pavel N Pichurin, Sarah A Ewing, Sarah S Barnett, Eric W Klee, M Scott Perry, Mary Kay Koenig, Catherine E Keegan, Jane L Schuette, Stephanie Asher, Yezmin Perilla-Young, Laurie D Smith, Jill A Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E Lin, Marcie A Steeves, Nicolette den Hollander, Mariëtte J V Hoffer, Margot R F Reijnders, Serwet Demirdas, Daniel C Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E Hickey, Christine Shieh, Pedro A Sanchez-Lara, John M Graham, Kamer Tezcan, G B Schaefer, Noelle R Danylchuk, Alexander Asamoah, Kelly E Jackson, Naomi Yachelevich, Margaret Au, Luis A Pérez-Jurado, Tjitske Kleefstra, Peter Penzes, Stephen A Wood, Thomas Burne, Tyler Mark Pierson, Michael Piper, Jozef Gécz, Lachlan A Jolly,

BACKGROUND:The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and ... Read more >>

Biol. Psychiatry (Biological psychiatry)
[2020, 87(2):100-112]

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Aaron R Jeffries, Reza Maroofian, Claire G Salter, Barry A Chioza, Harold E Cross, Michael A Patton, Emma Dempster, I Karen Temple, Deborah J G Mackay, Faisal I Rezwan, Lise Aksglaede, Diana Baralle, Tabib Dabir, Matthew F Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury-Ecob, Angelo Selicorni, Amanda Springer, Lionel Van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton-Brown, Jonathan Mill, Andrew H Crosby, Emma L Baple,

Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha (DNMT3A) are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G > A; p.(Arg771Gln) carriers in a large Amish sibship with Tatton-Brown-Rahman syndrome (TBRS), their ... Read more >>

Genome Res. (Genome research)
[2019, 29(7):1057-1066]

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PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Viorica Chelban, Matthew P Wilson, Jodi Warman Chardon, Jana Vandrovcova, M Natalia Zanetti, Eleni Zamba-Papanicolaou, Stephanie Efthymiou, Simon Pope, Maria R Conte, Giancarlo Abis, Yo-Tsen Liu, Eloise Tribollet, Nourelhoda A Haridy, Juan A Botía, Mina Ryten, Paschalis Nicolaou, Anna Minaidou, Kyproula Christodoulou, Kristin D Kernohan, Alison Eaton, Matthew Osmond, Yoko Ito, Pierre Bourque, James E C Jepson, Oscar Bello, Fion Bremner, Carla Cordivari, Mary M Reilly, Martha Foiani, Amanda Heslegrave, Henrik Zetterberg, Simon J R Heales, Nicholas W Wood, James E Rothman, Kym M Boycott, Philippa B Mills, Peter T Clayton, Henry Houlden, ,

OBJECTIVE:To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS:We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants ... Read more >>

Ann. Neurol. (Annals of neurology)
[2019, 86(2):225-240]

Cited: 1 time

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.

Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza,

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abnormalities which may include craniosynostosis. We aimed at unveiling the genetic lesions underpinning the phenotype ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:210]

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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Vincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, Christine G Spaeth, Stephanie Efthymiou, Pasquale Striano, Jana Vandrovcova, Maria C Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marce-Grau, Miquel Raspall-Chaure, Elena Martin-Hernandez, Federico Zara, Carlo Minetti, , , Oscar D Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frederic Tran Mau-Them, Laurence Faivre, Francisco Martinez-Azorin, Carlos E Prada, Alfons Macaya, Dimitri M Kullmann, James E Rothman, Shyam S Krishnakumar, Henry Houlden,

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2019, 104(4):721-730]

Cited: 2 times

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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T Alaimo, Brett Graham, Jill M Harris, James B Gibson, Matthew Pastore, Kim L McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A Fanning, Klaas J Wierenga, Daryl A Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J Lloyd Holder, Lindsay C Burrage, Laurie H Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, , Donna M Muzny, Richard A Gibbs, Sarah H Elsea, Jennifer E Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M Eng, James R Lupski, Pengfei Liu,

It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated. ... Read more >>

Genome Med (Genome medicine)
[2019, 11(1):16]

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T Alaimo, Brett Graham, Jill M Harris, James B Gibson, Matthew Pastore, Kim L McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A Fanning, Klaas J Wierenga, Daryl A Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J Lloyd Holder, Lindsay C Burrage, Laurie H Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, , Donna M Muzny, Richard A Gibbs, Sarah H Elsea, Jennifer E Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M Eng, James R Lupski, Pengfei Liu,

BACKGROUND:Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large number of genes (hundreds) associated. To date, a few de novo mutations potentially disrupting TCF20 function in patients with ID, ASD, ... Read more >>

Genome Med (Genome medicine)
[2019, 11(1):12]

Cited: 4 times

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Breheret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, Xavier Balguerie, Sébastien Barbarot, Geneviève Baujat, Tawfeg Ben-Omran, Anne-Claire Bursztejn, Virginie Carmignac, Alexandre N Datta, Aline Delignières, Laurence Faivre, Betty Gardie, Jean-Louis Guéant, Paul Kuentz, Marion Lenglet, Marie-Cécile Nassogne, Vincent Ramaekers, Rhonda E Schnur, Yue Si, Erin Torti, Julien Thevenon, Pierre Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, Francois Feillet, Bertrand Isidor,

PURPOSE:Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(9):2025-2035]

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Aaron Jeffries, Reza Maroofian, Claire Salter, Barry Chioza, Harold Cross, Michael Patton, Karen Temple, Deborah Mackay, Faisal Rezwan, Lise Aksglæde, Diana Baralle, Tabib Dabir, Matthew Frank Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury-Ecob, Angelo Selicorni, Amanda Springer, Lionel van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton-Brown, Jonathan Mill, Andrew Crosby, Emma Baple,

Abstract Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3A ( DNMT3A ) are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G>A; p.(Arg771Gln) carriers in a large Amish sibship with Tatton-Brown-Rahman syndrome (TBRS), their ... Read more >>

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Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, Mylène Valduga, Kenneth McElreavey, Didier Riethmuller, Lionel Van Maldergem, Juliette Piard,

A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2019, 62(9):103539]

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Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Xia Wang, Jennifer E Posey, Jill A Rosenfeld, Carlos A Bacino, Fernando Scaglia, LaDonna Immken, Jill M Harris, Scott E Hickey, Theresa M Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S Leduc, Weimin He, Francesco Vetrini, Magdalena A Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Y Gulec, Yunyun Jiang, Sandra A Darilek, Adam W Hansen, Michael M Khayat, Davut Pehlivan, Juliette Piard, Donna M Muzny, Neil Hanchard, John W Belmont, Lionel Van Maldergem, Richard A Gibbs, Mohammad K Eldomery, Zeynep C Akdemir, Adekunle M Adesina, Shan Chen, Yi-Chien Lee, , Brendan Lee, James R Lupski, Christine M Eng, Fan Xia, Yaping Yang, Brett H Graham, Paolo Moretti,

De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique DDX3X variants, including 30 postnatal individuals with ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2018, 5(10):1277-1285]

Cited: 1 time

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FBLN5-Related Cutis Laxa

Lionel Van Maldergem, Bart Loeys,

CLINICAL CHARACTERISTICS:FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvular aortic stenosis is observed. Intrafamilial variability in age of onset is observed. ... Read more >>

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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Josephina A N Meester, Maja Sukalo, Kim C Schröder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C Bramswig, Duygu Duman, Brigitte Gilbert-Dussardier, Muriel Holder-Espinasse, Peter Itin, Diana S Johnson, Shelagh Joss, Hannele Koillinen, Fiona McKenzie, Jenny Morton, Heike Nelle, Willie Reardon, Claudia Roll, Mustafa A Salih, Ravi Savarirayan, Ingrid Scurr, Miranda Splitt, Elizabeth Thompson, Hannah Titheradge, Colm P Travers, Lionel Van Maldergem, Margo Whiteford, Dagmar Wieczorek, Geert Vandeweyer, Richard Trembath, Lut Van Laer, Bart L Loeys, Martin Zenker, Laura Southgate, Wim Wuyts,

Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data on the frequency and distribution ... Read more >>

Hum. Mutat. (Human mutation)
[2018, 39(9):1246-1261]

Cited: 1 time

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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I Rees, Seo-Kyung Chung, Henry Houlden, Alain Verloes, Ted M Dawson, Valina L Dawson, Lionel Van Maldergem, Kerstin Kutsche,

Brain (Brain : a journal of neurology)
[2018, 141(6):e50]

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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem,

We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral ... Read more >>

Hum. Mutat. (Human mutation)
[2018, 39(8):1076-1080]

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