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Phenotype-Based Criteria Increases Diagnostic Impact of Exome Sequencing in Neonates.

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(3):422-423]

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New Definition of Unexplained Regression in Down Syndrome Proposed.

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(3):421-422]

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Further delineation of METTL23-associated intellectual disability.

Mohammed Almannai, Osama Obaid, Eissa Faqeih, Ali Alasmari, Manar M Samman, Hailey Pinz, Stephen R Braddock, Fowzan S Alkuraya,

METTL23 belongs to a family of methyltransferase like proteins (METTL) that transfer methyl group to various substrates. Recently, pathogenic homozygous variants in METTL23 were identified in patients from three families who presented with intellectual disability (ID) and variable dysmorphic features. In this report, we present unpublished phenotypic data from the ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.

Can Ding, Rolf Beetz, Gabriele Rittner, Oliver Bartsch,

There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four-generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

Isabelle C Windheuser, Jessica Becker, Kirsten Cremer, Hela Hundertmark, Laura M Yates, Elisabeth Mangold, Sophia Peters, Franziska Degenhardt, Kerstin U Ludwig, Alexander M Zink, Davor Lessel, Tatjana Bierhals, Theresia Herget, Jessika Johannsen, Jonas Denecke, Eva Wohlleber, Tim M Strom, Dagmar Wieczorek, Marta Bertoli, Roberto Colombo, Maja Hempel, Hartmut Engels,

Both point mutations and deletions of the MYT1L gene as well as microdeletions of chromosome band 2p25.3 including MYT1L are associated with intellectual disability, obesity, and behavioral problems. Thus, MYT1L is assumed to be the-at least mainly-causative gene in the 2p25.3 deletion syndrome. Here, we present comprehensive descriptions of nine ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Cantu syndrome: A longitudinal review of vascular findings in three individuals.

Ashley Parrott, Rachel Lombardo, Nicole Brown, Justin T Tretter, Laura Riley, Kathryn Nicole Weaver,

Cantu syndrome is a rare autosomal dominant disorder caused by missense variants in ABCC9 and KCNJ8. It is characterized by hypertrichosis, neonatal macrosomia, coarse facial features, and skeletal anomalies. Reported cardiovascular anomalies include cardiomegaly, structural defects, collateral vessels, and rare report of arteriovenous malformation (AVM). Arterial dilation is reported in ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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MECP2 duplication syndrome in a patient from Cameroon.

Cedrik Tekendo-Ngongang, Sophie Dahoun, Séraphin Nguefack, Isabelle Moix, Stefania Gimelli, Huguette Zambo, Michael A Morris, Frédérique Sloan-Béna, Ambroise Wonkam,

MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intellectual disability, very poor-to-absent speech, progressive spasticity, seizures, and recurrent infections. The ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Pauline Le Van Quyen, Nadège Calmels, Maryse Bonnière, Suzanne Chartier, Féréchté Razavi, Jamel Chelly, Salima El Chehadeh, Sarah Baer, Lucile Boutaud, Séverine Bacrot, Cathy Obringer, Romain Favre, Tania Attié-Bitach, Vincent Laugel, Maria C Antal,

Cerebro-oculo-facio-skeletal syndrome (COFS) is a rare autosomal recessive neurodegenerative disease belonging to the family of DNA repair disorders, characterized by microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis. Here, we describe the detailed morphological and microscopic phenotype of three fetuses from two families harboring ERCC5/XPG likely pathogenic variants, and review the ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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SCN8A heterozygous variants are associated with anoxic-epileptic seizures.

Emmanuelle Ranza, Werner Z'Graggen, Mathias Lidgren, Maurice Beghetti, Michel Guipponi, Stylianos E Antonarakis, Michael Absoud, Sushma Goyal, Deb K Pal, Christian M Korff,

Anoxic-epileptic seizures (AES) are rare outcomes of common childhood reflex anoxic syncope that trigger a true epileptic seizure. The term AES was coined by Stephenson in 1983, to differentiate these events from convulsive syncopes and the more common reflex anoxic syncopes. A genetic susceptibility for AES has been postulated; but, ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

Conor I MacKay, David Bick, Jeremy W Prokop, Ivan Muñoz, John Rouse, Jenny Downs, Helen Leonard,

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene cause the neurodevelopmental disorder, the CDKL5 deficiency disorder. Reports of individuals with pathogenic variants in CDKL5 without seizures are exceedingly rare, and in-depth analyses of their variants have been lacking. Whole-genome sequencing was performed on a 29-year-old female with mild intellectual ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Alice Goldenberg, Thomas Husson, Dominique Campion, Klaske D Lichtenbelt, Koen van Gassen, Michelle Steinraths, Jennifer Rice, Elizabeth R Roeder, Rebecca O Littlejohn, Myriam Srour, Guillaume Sebire, Andrea Accogli, Delphine Héron, Solveig Heide, Caroline Nava, Christel Depienne, Austin Larson, Dmitriy Niyazov, Meron Azage, George Hoganson, Jennifer Burton, Eric T Rush, Janda L Jenkins, Carol J Saunders, Isabelle Thiffault, Joseph T Alaimo, Julie Fleischer, Daniel Groepper, Karen W Gripp, Wendy K Chung,

CDC42BPB encodes MRCKβ (myotonic dystrophy-related Cdc42-binding kinase beta), a serine/threonine protein kinase, and a downstream effector of CDC42, which has recently been associated with Takenouchi-Kosaki syndrome, an autosomal dominant neurodevelopmental disorder. We identified 12 heterozygous predicted deleterious variants in CDC42BPB (9 missense, 2 frameshift, and 1 nonsense) in 14 unrelated ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Grandparental genotyping enhances exome variant interpretation.

Hagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma, Avraham Shaag, Shira Silverstein, Mordechai Shohat, Orly Elpeleg, Vardiella Meiner, Tamar Harel,

Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband-only sequencing, mainly due to the rapid identification of de novo disease-causing variants. However, heterozygous variants inherited from unaffected parents may be inadvertently dismissed, although multiple explanations are available ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

Alissa M D'Gama, William J Brucker, Tian Zhang, Cynthia S Gubbels, Sacha Ferdinandusse, Jiahai Shi, Patricia Ellen Grant, Grace VanNoy, Casie A Genetti, Jane Juusola, Timothy W Yu, Amy Kritzer, Pankaj B Agrawal,

3-Hydroxyisobutyryl-CoA dehydrogenase (HIBCH) deficiency is a rare error in valine catabolism associated with a Leigh syndrome-like phenotype, mitochondrial dysfunction, and increased C4-OH. We report the most severe case to date in a full-term female who presented with poor feeding and nystagmus on day of life (DOL) 1. Although initial neuroimaging ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.

Elizabeth Acosta-Fernández, Juan C Zenteno, Oscar F Chacón-Camacho, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Carmen O Romo-Huerta, Luz C Zepeda-Romero, Eloy López-Marure, Jorge Acosta-León, Diana García-Cruz, Eric Jonathan Maciel-Cruz, Jorge Román Corona-Rivera,

We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.

André Mégarbané, Asha Deepthi, Marc Obeid, Mahmoud T Al-Ali, Alicia Gambarini, Stephany El-Hayek,

We describe a patient with palatal abnormalities-cleft palate and bifid uvula; distinctive facial features-long and triangular face, large ears and nose, thin lips and dental crowding; musculoskeletal abnormalities-severe scoliosis, joint laxity, long digits, flat feet, decreased muscle mass, and diminished muscle strength; and cardiac features-a dilatated ascending aorta at the ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

Lev Prasov, Ehsan Ullah, Amy E Turriff, Blake M Warner, Julie Conley, Paul R Mark, Robert B Hufnagel, Laryssa A Huryn,

Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone-rod dystrophy and amelogenesis imperfecta. Few cases have been reported in the Americas. Here we describe a case series of patients with Jalili syndrome examined at the National Eye Institute's Ophthalmic Genetics clinic between 2016 and ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(3):493-497]

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Effects of growth hormone treatment on thyroid function in pediatric patients with Prader-Willi syndrome.

Yuji Oto, Nobuyuki Murakami, Keiko Matsubara, Sohei Saima, Hiroyuki Ogata, Hiroshi Ihara, Toshiro Nagai, Tomoyo Matsubara,

It is unclear whether hypothyroidism is present in patients with Prader-Willi syndrome (PWS). This study aimed to clarify the state of the hypothalamic-pituitary-thyroid axis and the effects of growth hormone (GH) treatment on thyroid function in pediatric patients with PWS. We retrospectively evaluated thyroid function in 51 patients with PWS ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus".

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(2):275-276]

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Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.

Faith Lindsay, Ilse Anderson, Ingrid M Wentzensen, David Suhrbier, Cathy A Stevens,

Rhombencephalosynapsis (RES) is a rare congenital anomaly of the hindbrain characterized by fusion of the cerebellar hemispheres, cerebellar peduncles, and dentate nuclei with vermian absence or hypogenesis. This anomaly can be isolated or part of a larger spectrum of cerebral abnormalities. At least 90 cases are described in the literature ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Computational Approach can Increase the Power of Human Genetic Analysis.

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(2):276-277]

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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

Alina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, Ewa Hubert, Bożena Skotnicka, Elżbieta Hassmann-Poznańska, Teresa Sierpińska, Barbara Panasiuk, Denny Schanze, Martin Zenker,

We report on two unrelated families of Polish origin with variable expression of Fraser syndrome (FS; MIM#219000) due to homozygosity for the same pathogenic variant, c.6963_6964dup, of FRAS1. In one family, the disorder presented with perinatal and prenatal lethality. One affected female from family 2 who was followed-up for 32 years, ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.

Pedro H Lucena, Giulia Armani-Franceschi, Ana Cecília Bispo-Torres, Igor D Bandeira, Mariana F G Lucena, Igor Maldonado, Marielza F Veiga, Diego Miguel, Rita Lucena,

Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.

Yılmaz Yıldız, Mutluay Arslan, Gökalp Çelik, Çiğdem Seher Kasapkara, Serdar Ceylaner, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı,

Phosphomannomutase 2 deficiency (PMM2-CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates of consanguinity, many patients with autosomal recessive disorders have homozygous variants and these diseases are more common, compared to Europe. However, published reports of ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?

Michael T Gabbett, Cassandra J Jeavons, Peter H Gray,

Jansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in PTH1R was demonstrated, ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.

Grace M Anbouba, Erin P Carmany, Jaime L Natoli,

The objective of this study was to review the published literature on X-linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English-language articles was conducted in May 2019 to identify publications with information on any of ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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