The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

Date publication

janvier 2018

Journal

European journal of human genetics : EJHG

Auteurs

Membres identifiés du Cancéropôle Est :
Mr DUFFOURD Yannis

Tous les auteurs :
Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/29187737

Résumé

A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing in consanguineous families. Disease-associated variants in TRAPPC9 were reported in eight multiplex consanguineous sibships from different ethnic backgrounds, and led to the delineation of the phenotype. Affected patients have microcephaly, obesity, normal motor development, severe ID, and language impairment and brain anomalies.

Mots clés

Abnormalities, Multiple, genetics, Adult, Carrier Proteins, genetics, Child, Child, Preschool, DNA Copy Number Variations, Female, Genes, Recessive, Humans, Intellectual Disability, genetics, Intercellular Signaling Peptides and Proteins, Male, Syndrome

Référence

Eur J Hum Genet. 2018 01;26(1):143-148