| CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. | |
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MedLine Citation:
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PMID: 19021638 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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, these three CHD7-positive patients showed additional features that are seen in CHARGE syndrome. CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE syndrome phenotype. We did not find mutations in patients with isolated KS. These findings imply that patients diagnosed with hypogonadotropic hypogonadism and anosmia should be screened for clinical features consistent with CHARGE syndrome. If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended. |
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Authors:
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M C J Jongmans; C M A van Ravenswaaij-Arts; N Pitteloud; T Ogata; N Sato; H L Claahsen-van der Grinten; K van der Donk; S Seminara; J E H Bergman; H G Brunner; W F Crowley; L H Hoefsloot |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2008-11-17 |
Journal Detail:
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Title: Clinical genetics Volume: 75 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-01-08 Completed Date: 2009-02-17 Revised Date: 2011-06-02 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 65-71 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. m.jongmans@antrg.umcn.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple*
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diagnosis,
genetics Cohort Studies DNA Helicases / genetics* DNA-Binding Proteins / genetics* Female Genetic Diseases, Inborn / diagnosis*, genetics* Humans Kallmann Syndrome / diagnosis*, genetics* Male Mutation* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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U54 HD028138-18/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; EC 3.6.1.-/DNA Helicases; EC 5.99.-/CHD7 protein, human |
| Comments/Corrections | |
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