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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Gordon, Christopher T Petit, Florence Oufadem, Myriam Decaestecker, Charles Jourdain, Anne-Sophie Andrieux, Joris Malan, Valérie Alessandri, Jean-Luc Baujat, Geneviève Baumann, Clarisse ...

Published in Journal of Medical Genetics

Background: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until...

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dys...

Cavalcanti, D. P. Huber, C. Sang, K. H. Baujat, G. Collins, F. Delezoide, A.-L. Dagoneau, N. Le Merrer, M. Martinovic, J. Mello, M. F. S. ...

Published in Journal of Medical Genetics

Background: The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein i...

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant huma...

Steffann, Julie Pouliet, Aurore Adjal, Houda Bole, Christine Fourrage, Cécile Martinovic, Jelena Rolland-Galmiche, Louise Agnès Rötig Tores, Frédéric Munnich, Arnold ...

Published in Journal of Medical Genetics

Background: While mitochondrial DNA (mtDNA) copy number is strictly regulated during differentiation and according to cell type, very little is known regarding the mechanism which accurately controls mtDNA copy number in human. Exon 2 of the human POLG gene, encoding the catalytic subunit of the mitochondrial-specific DNA polymerase gamma, contains...

Mutations in SETD2 cause a novel overgrowth condition.

Luscan, Armelle Laurendeau, Ingrid Malan, Valérie Francannet, Christine Odent, Sylvie Giuliano, Fabienne Lacombe, Didier Touraine, Renaud Michel Vidaud Pasmant, Eric ...

Published in Journal of Medical Genetics

Our results illustrate the power of targeted next-generation sequencing to identify rare disease-causing variants. We provide a compelling argument for Sotos and Sotos-like syndromes as epigenetic diseases caused by loss-of-function mutations of epigenetic writers of the H3K36 histone mark.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with ...

Metodiev, Metodi Dimitrov Gerber, Sylvie Hubert, Laurence Delahodde, Agnès Chretien, Dominique Gérard, Xavier Amati-Bonneau, Patrizia Giacomotto, Marie-Christine Nathalie Boddaert Kaminska, Anna ...

Published in Journal of Medical Genetics

Our study shows that autosomal recessive ACO2 mutations can cause either isolated or syndromic optic neuropathy. This observation identifies ACO2 as the second gene responsible for non-syndromic autosomal recessive optic neuropathies and provides evidence for a genetic overlap between isolated and syndromic forms, giving further support to the view...

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.

Bustamante, Jacinta Picard, Capucine Fieschi, Claire Filipe-Santos, Orchidée Feinberg, Jacqueline Perronne, Christian Chapgier, Ariane de Beaucoudrey, Ludovic Vogt, Guillaume Sanlaville, Damien ...

Published in J Vis Exp

A new X-linked recessive form of MSMD is reported, paving the way for the identification of a new MSMD-causing gene.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Lebre, A. S. Rio, M. Faivre d'Arcier, L. Vernerey, D. Landrieu, P. Slama, A. Jardel, C. Laforet, P. Rodriguez, D. Dorison, N. ...

Published in Journal of Medical Genetics

Objective: To identify a consistent pattern of brain MRI imaging in primary complex I deficiency. Complex I deficiency, a major cause of respiratory chain dysfunction, accounts for various clinical presentations, including Leigh syndrome. Human complex I comprises seven core subunits encoded by mitochondrial DNA (mtDNA) and 38 core subunits encoded...

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a s...

El Chehadeh, Salima Aral, Bernard Gigot, Nadège Thauvin-Robinet, Christel Donzel, Anne Delrue, Marie-Ange Lacombe, Didier David, Albert Burglen, Lydie Philip, Nicole ...

Published in Journal of Medical Genetics

From this study and a review of more than 160 genotyped cases from the literature, it is concluded that, given the large size of the gene, VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years. The follow-up of young patients could be a satisfactory alternative unless there are some...

The high frequency of Complement Factor H-Related CFHR1 Gene Deletion is restricted to specific subgroups of patients wi...

Dragon-Durey, Marie-Agnès Blanc, Caroline Marliot, Florence Loirat, Chantal Blouin, Jacques Catherine Sautes-Fridman Fridman, Wolf Herman Véronique Fremeaux-Bacchi

Published in Journal of Medical Genetics

Deletion of the Complement Factor H Related 1 (CFHR1) gene is a consequence of non-allelic homologous recombination and has been reported to be more frequent in atypical haemolytic uraemic syndrome (aHUS) patients than in the normal population. Therefore, it is considered a susceptibility factor for the disease. Atypical HUS is associated with here...

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, inte...

Thevenon, Julien Callier, Patrick Poquet, Hélène Bache, Iben Menten, Bjorn Malan, Valérie Cavaliere, Maria Luigia Girod, Jean-Paul Thauvin-Robinet, Christel El Chehadeh, Salima ...

Published in Journal of Medical Genetics

We report on a new microdeletional syndrome that associates with a recognisable facial dysmorphism and marfanoid habitus including scoliosis, neuropsychiatric disorders of the psychotic spectrum and moderate to severe ID.

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