Ontology highlight
ABSTRACT:
SUBMITTER: Mattioli F
PROVIDER: S-EPMC5223023 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Mattioli Francesca F Schaefer Elise E Magee Alex A Mark Paul P Mancini Grazia M GM Dieterich Klaus K Von Allmen Gretchen G Alders Marielle M Coutton Charles C van Slegtenhorst Marjon M Vieville Gaëlle G Engelen Mark M Cobben Jan Maarten JM Juusola Jane J Pujol Aurora A Mandel Jean-Louis JL Piton Amélie A
American journal of human genetics 20161208 1
Intellectual disability (ID) is a common neurodevelopmental disorder exhibiting extreme genetic heterogeneity, and more than 500 genes have been implicated in Mendelian forms of ID. We performed exome sequencing in a large family affected by an autosomal-dominant form of mild syndromic ID with ptosis, growth retardation, and hypotonia, and we identified an inherited 2 bp deletion causing a frameshift in BRPF1 (c.1052_1053del) in five affected family members. BRPF1 encodes a protein modifier of t ...[more]