Ontology highlight
ABSTRACT:
SUBMITTER: Lebrun N
PROVIDER: S-EPMC5839021 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Lebrun Nicolas N Giurgea Irina I Goldenberg Alice A Dieux Anne A Afenjar Alexandra A Ghoumid Jamal J Diebold Bertrand B Mietton Léo L Briand-Suleau Audrey A Billuart Pierre P Bienvenu Thierry T
European journal of human genetics : EJHG 20171204 1
Variants in KMT2A, encoding the histone methyltransferase KMT2A, are a growing cause of intellectual disability (ID). Up to now, the majority of KMT2A variants are non-sense and frameshift variants causing a typical form of Wiedemann-Steiner syndrome. We studied KMT2A gene in a cohort of 200 patients with unexplained syndromic and non-syndromic ID and identified four novel variants, one splice and three missense variants, possibly deleterious. We used primary cells from the patients and molecula ...[more]