Full Text Journal Articles in
Journal Eur J Med Genet

Advertisement

Find full text journal articles






Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Sonja Walsh, Sophie Scarlett Gösswein, Andreas Rump, Maja von der Hagen, Karl Hackmann, Evelin Schröck, Nataliya Di Donato, Anne-Karin Kahlert,

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been described as an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common characteristics include developmental delay, intellectual disability, optic nerve atrophy, hypotonia, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity and thinning of the corpus callosum. Missense mutations in ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104019]

Cited: 0 times

View full text PDF listing >>



Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome.

Idit Maya, Sarit Kahana, Ifaat Agmon-Fishman, Cochava Klein, Reut Matar, Racheli Berger, Mordechai Shohat, Lina Basel-Salmon, Reuven Sharony, Lena Sagi-Dain,

INTRODUCTION:Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder, associated with heterozygous mutations in the FBN2 gene. The objective of this study was to evaluate the prevalence of an intragenic deletion encompassing exons 1-8 of FBN2 gene in Israeli population. MATERIALS AND METHODS:A search for intragenic FBN2 microdeletions was ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(10):104008]

Cited: 0 times

View full text PDF listing >>



Advertisement

The external phenotype of aging.

Raoul Cm Hennekam,

Aging is widely studied as a physiological process. Segmental aging can also occur prematurely in Mendelian disorders, and these can act this way as excellent sources of information, specifically for the underlying mechanisms. Adequate recognition of such aging characteristics in Mendelian disorders needs a well-defined phenotype of aging. Here the ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :103995]

Cited: 0 times

View full text PDF listing >>



Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers.

Anna Sato, Toshifumi Suzuki, Mitsuru Ikeno, Jun Takeda, Yuka Yamamoto, Mitsuko Shinohara, Shintaro Makino, Satoru Takeda, Toshiaki Shimizu, Atsuo Itakura,

9p duplication syndrome is a common congenital anomaly syndrome with specific facial features, mental and developmental retardations, and characteristic fingers. Pure 9p duplication without other chromosomal structural variations is very rare. It has recently been reported that cases with partial 9p duplication including SMARCA2 have phenotypes overlapping with Coffin-Siris syndrome ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(10):104005]

Cited: 0 times

View full text PDF listing >>



Outcome associated with EPCAM founder mutation c.499dup in Qatar.

Kamal Hassan, Gulab Sher, Eman Hamid, Khalid Abou Hazima, Hatim Abdelrahman, Fatma Al Mudahka, Wesam Al-Masri, Jisha Sankar, Mahlah Daryaee, Rana Shawish, Muzammil Ahmad Khan, Zafar Nawaz,

Tufting enteropathy (TE) is a rare autosomal recessive congenital enteropathy that usually requires long-term parenteral nutrition (PN). In the Arabic Peninsula, four distinct EPCAM mutations have been identified to cause TE. As consanguineous marriages are socially favored, pre-marital and pre-conception testing has become a critical disease prevention strategy. This study ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104023]

Cited: 0 times

View full text PDF listing >>



Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.

Katja K Dumic, Darko Anticevic, Jelena Petrinovic-Doresic, Tamara Zigman, Kamelija Zarković, Filip Rokic, Oliver Vugrek,

The oculocerebrorenal syndrome of Lowe (LS) is a rare, progressive, multisystemic X-linked disorder caused by mutations in OCRL gene. Patients classically present with ocular abnormalities including bilateral congenital cataracts and glaucoma, intellectual delay, severe generalized hypotonia with absent tendon reflexes, and proximal renal tubular dysfunction. Congenital bilateral cataracts and hypotonia ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104022]

Cited: 0 times

View full text PDF listing >>



Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.

Xueying Su, Huiying Sheng, Yonglan Huang, Xiuzhen Li, Wen Zhang, Xiaoyuan Zhao, Cuiling Li, Li Liu,

Eur J Med Genet (European journal of medical genetics)
[2020, :103997]

Cited: 0 times

View full text PDF listing >>



Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome.

Dongxiao Li, Jinqing Song, Xiyuan Li, Yi Liu, Hui Dong, Lulu Kang, Yupeng Liu, Yao Zhang, Ying Jin, Hanzhou Guan, Chongchen Zhou, Yanling Yang,

Thiamine metabolism dysfunction syndrome (THMD) comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance. Four genes, SLC19A3, SLC25A19, SLC19A2, and TPK1, are associated with this disorder. This study aimed to explore the clinical, biochemical and molecular characteristics of seven Chinese patients with THMD. Targeted next-generation sequencing ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104003]

Cited: 0 times

View full text PDF listing >>



Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

Linda Pons, Isabelle Sabatier, Eudeline Alix, Marie Faoucher, Audrey Labalme, Damien Sanlaville, Gaetan Lesca,

(OMIM 601730) encodes the PIGC protein, which is part of an enzyme complex involved in the biosynthesis of the glycosylphosphatidylinositol protein anchor. The other proteins in the complex include PIGA, PIGH, PIGQ, PIGY, PIGP and DPM2. Homozygous and compound heterozygous mutations in PIGC have recently been described to cause severe ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :103994]

Cited: 0 times

View full text PDF listing >>



Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, François Lecoquierre, Marie Brasseur-Daudruy, Florence Petit, Thomas Smol, Alban Ziegler, Dominique Bonneau, Estelle Colin, Sandra Mercier, Benjamin Cogné, Stéphane Bézieau, Patrick Edery, Gaetan Lesca, Nicolas Chatron, Isabelle Sabatier, Bénédicte Duban-Bedu, Cindy Colson, Amélie Piton, Benjamin Durand, Yline Capri, Laurence Perrin, Antje Wiesener, Christiane Zweier, Reza Maroofian, Christopher J Carroll, Hamid Galehdari, Neda Mazaheri, Bert Callewaert, Fabienne Giulianno, Khaoula Zaafrane-Khachnaoui, Rebecca Buchert-Lo, Tobias Haack, Janine Magg, Angelika Rieß, Maria Blandfort, Stephan Waldmüller, Veronka Horber, Emanuela Leonardi, Roberta Polli, Licia Turolla, Alessandra Murgia, Thierry Frebourg, Anne Sophie Lebre, Gaël Nicolas, Pascale Saugier-Veber, Anne-Marie Guerrot,

De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its first description in 2013, nine patients have been reported in case reports and a series of 50 patients ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104004]

Cited: 0 times

View full text PDF listing >>



BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.

M Prasad, T B Balci, C Prasad, J D Andrews, R Lee, M T Jurkiewicz, M P Napier, S Colaiacovo, M J Guillen Sacoto, N Karp,

The product of the BCL11B (B-Cell Leukemia 11) gene is a bi-functional transcriptional regulator that can act as either a repressor or an activator. It plays an important role in the development of the nervous, immune, and cutaneous systems, and is also involved in dental and craniofacial development. BCL11B-Related Disorder ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104007]

Cited: 0 times

View full text PDF listing >>



A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood.

Christine Keywan, Ingrid A Holm, Annapurna Poduri, Catherine A Brownstein, Sanda Alexandrescu, Jennifer Chen, Christopher Geffre, Richard D Goldstein,

Sudden Unexplained Death in Childhood (SUDC), the death of a child that remains unexplained after a complete autopsy and investigation, is a rare and poorly understood entity. This case report describes a 3-year-old boy with history of language delay and ptosis, who died suddenly in his sleep without known cause. ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104002]

Cited: 0 times

View full text PDF listing >>



EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.

Renee Carroll, Marie Shaw, Maria Arvio, Alison Gardner, Raman Kumar, Bree Hodgson, Sarah Heron, Fiona McKenzie, Irma Järvelä, Jozef Gecz,

The major and most well-studied genetic cause of Fragile-X syndrome (FXS) is expansion of a CGG repeat in the 5'-UTR of the FMR1 gene. Routine testing for this expansion is performed globally. Overall, there is a paucity of intragenic variants explaining FXS, a fact which is being addressed by a ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104010]

Cited: 0 times

View full text PDF listing >>



A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.

Katalin L M L Hetzelt, Cornelia Kraus, Stefan Kusnik, Christian Thiel, Steffen Uebe, Arif B Ekici, Regina Trollmann, André Reis, Christiane Zweier,

Autosomal-recessive spinocerebellar ataxia type 18 (SCAR18) is a rare neurologic disorder. It is caused by bi-allelic aberrations in the GRID2 gene, encoding an ionotropic glutamate receptor. In total, 20 affected individuals with mainly homozygous/compound heterozygous intragenic deletions/duplications, two different missense variants and one nonsense variant in GRID2 have been reported, ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :103998]

Cited: 0 times

View full text PDF listing >>



A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

Yanmei Luo, Huamei Hu, Luping Jiang, Yongyi Ma, Rong Zhang, Juchun Xu, Yan Pan, Yang Long, Hong Yao, Zhiqing Liang,

OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test and post-test genetic counseling was provided, and ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104001]

Cited: 0 times

View full text PDF listing >>



Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

Fanny Kortüm, Marcello Niceta, Monia Magliozzi, Katja Dumic Kubat, Stephen P Robertson, Angelica Moresco, Maria Lisa Dentici, Anwar Baban, Chiara Leoni, Roberta Onesimo, Maria Gabriela Obregon, Maria Cristina Digilio, Giuseppe Zampino, Antonio Novelli, Marco Tartaglia, Kerstin Kutsche,

Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding heterooctameric ATP-sensitive potassium (KATP) channels. CS shows considerable clinical overlap with Zimmermann-Laband syndrome (ZLS), a rare condition with coarse ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :103996]

Cited: 0 times

View full text PDF listing >>



Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.

Xuechao Zhao, Yanhong Wang, Shiyue Mei, Chen Chen, Lina Liu, Conghui Wang, Ganye Zhao, Xiangdong Kong,

Spinal muscular atrophy (SMA) is a common autosomal recessive genetic disorder characterized by degeneration of motor neurons and weakness and muscle atrophy. Approximately 95% of SMA patients are caused by homozygous deletions of the SMN1 gene, whereas the remaining 5% of patients harbor compound heterozygous mutations such as an SMN1 ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104006]

Cited: 0 times

View full text PDF listing >>



Williams-Beuren Syndrome and celiac disease: A real association?

Elisabetta Pangallo, Barbara Parma, Milena Mariani, Paola Cianci, Anita De Paoli, Silvia Maitz, Chiara Fossati, Roberto Panceri, Massimo Agosti, Angelo Selicorni,

Celiac disease (CD) screening in patients with Williams-Beuren Syndrome (WBS) is suggested, although data described in literature are discordant regarding CD prevalence in WBS. We retrospectively collected data from 101 WBS Italian patients [mean age: 13.5 years], to clarify the CD prevalence in a large cohort. All patients underwent a ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :103999]

Cited: 0 times

View full text PDF listing >>



Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.

Belal Azab, Zain Dardas, Omar Rabab'h, Luma Srour, Hussam Telfah, Ma'mon M Hatmal, Lina Mustafa, Lana Rashdan, Eyad Altamimi,

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with recessively inherited variants ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(9):103981]

Cited: 0 times

View full text PDF listing >>



Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".

Giulia Pascolini, Michele Valiante, Irene Bottillo, Luigi Laino, Alessandro Ferraris, Paola Grammatico, Nicole Fleischer,

Eur J Med Genet (European journal of medical genetics)
[2020, :103993]

Cited: 0 times

View full text PDF listing >>



Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

Disha Katiyar, Neil Anderson, Adam Bournazos, Sandra Cooper, Himanshu Goel,

The primary cilium is an organelle which plays an important role in the transduction of signals in the Wnt and Sonic hedgehog pathways. Abnormal or absent primary cilia result in various neurodevelopmental, retinal, renal, hepatic and musculoskeletal abnormalities. Joubert syndrome (JS) is a ciliopathy with a prevalence estimated to be ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104000]

Cited: 0 times

View full text PDF listing >>



Natural human chimeras: A review.

Kamlesh Madan,

The term chimera has been borrowed from Greek mythology and has a long history of use in biology and genetics. A chimera is an organism whose cells are derived from two or more zygotes. Recipients of tissue and organ transplants are artificial chimeras. This review concerns natural human chimeras. The ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(9):103971]

Cited: 0 times

View full text PDF listing >>



Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.

Katja Kloth, Claudia Cozma, Maxim Bester, Christian Gerloff, Saskia Biskup, Simone Zittel,

GBA2 associated spastic paraplegia type 46 (SPG46) is an autosomal-recessive disorder associated with a clinical presentation of spastic gait, muscle weakness as well as an array of clinical symptoms including pseudobulbar palsy and progressive cognitive decline. Several neurological and non-neurological symptoms are associated with GBA2 mutations. An initial presentation with ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(9):103992]

Cited: 0 times

View full text PDF listing >>



Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).

Sophie Duquesne, Marie-Cécile Nassogne, Philippe Clapuyt, Katrien Stouffs, Yves Sznajer,

Malformations of cortical development (MCD) represent a large group of brain cortical anomalies characterized by distinctive MRI findings. This 'radiologically-based' classification required re evaluation over time on identified underlying mechanisms (cytogenetic and/or molecular). The understanding of genotype findings (nature of cytogenetic/molecular mutation, cellular pathways consequences, timing, …) draw line of ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(9):103991]

Cited: 0 times

View full text PDF listing >>



Genetics of developmental dysplasia of the hip.

Stefan Harsanyi, Radoslav Zamborsky, Milan Kokavec, Lubos Danisovic,

In the last decade, the advances in the molecular analyses and sequencing techniques allowed researchers to study developmental dysplasia of the hip (DDH) more thoroughly. Certain chromosomes, genes, loci and polymorphisms are being associated with variable severity of this disorder. The wide range of signs and symptoms is dependent either ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(9):103990]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
0.9095 s