Ontology highlight
ABSTRACT:
SUBMITTER: Dubourg C
PROVIDER: S-EPMC3977224 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Dubourg C C Bonnet-Brilhault F F Toutain A A Mignot C C Jacquette A A Dieux A A Gérard M M Beaumont-Epinette M-P MP Julia S S Isidor B B Rossi M M Odent S S Bendavid C C Barthélémy C C Verloes A A David V V
Molecular syndromology 20140107 2
Smith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep disturbance, self-injurious behaviors and dysmorphic features. It is estimated to occur in 1/25,000 births, and in 90% of cases it is associated with interstitial deletions of chromosome 17p11.2. RAI1 (retinoic acid induced 1; OMIM 607642) mutations are the second most frequent molecular etiology, with this gene being located in the SMS locus at 17p11.2. Here, we report 9 new RAI1-truncating mutations in nonrelated in ...[more]