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