Ontology highlight
ABSTRACT:
SUBMITTER: Jongmans MC
PROVIDER: S-EPMC2854009 | biostudies-literature | 2009 Jan
REPOSITORIES: biostudies-literature
Jongmans M C J MC van Ravenswaaij-Arts C M A CM Pitteloud N N Ogata T T Sato N N Claahsen-van der Grinten H L HL van der Donk K K Seminara S S Bergman J E H JE Brunner H G HG Crowley W F WF Hoefsloot L H LH
Clinical genetics 20081117 1
Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) in whom mutations in KAL1, FGFR1, PROK2 and PROKR2 genes were excluded. Three of 56 KS/nIHH patients had de novo mutations in CHD7. In retrospect ...[more]