De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
Fiche publication
Date publication
décembre 2016
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J, , van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP
Lien Pubmed
Résumé
Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy.
Mots clés
Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, X, Codon, Nonsense, Drug Resistant Epilepsy, genetics, Female, Frameshift Mutation, Genes, X-Linked, Heterozygote, Humans, Intellectual Disability, genetics, Middle Aged, Mosaicism, Nerve Tissue Proteins, genetics, Syndrome, X Chromosome Inactivation
Référence
J. Med. Genet.. 2016 12;53(12):850-858