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CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
- Source :
- Clinical Genetics, 75(1), 65-71. Wiley, Clinical Genetics, 75, 1, pp. 65-71, Clinical Genetics, 75, 65-71
- Publication Year :
- 2008
-
Abstract
- Contains fulltext : 80605.pdf (Publisher’s version ) (Closed access) 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.
- Subjects :
- Male
medicine.medical_specialty
Genetics and epigenetic pathways of disease [NCMLS 6]
Kallmann syndrome
Anosmia
ADHESION
PHENOTYPE
Article
Genomic disorders and inherited multi-system disorders [IGMD 3]
Cohort Studies
CHARGE syndrome
MOLECULES
CHD7 gene
Hypogonadotropic hypogonadism
Hyposmia
Internal medicine
Genetics
medicine
Humans
HYPOGONADOTROPIC HYPOGONADISM
Abnormalities, Multiple
Genetics (clinical)
SPECTRUM
business.industry
Fibroblast growth factor receptor 1
Hormonal regulation [IGMD 6]
DNA Helicases
Genetic Diseases, Inborn
Aplasia
Kallmann Syndrome
Syndrome
medicine.disease
Dermatology
GENE
Hypoplasia
DNA-Binding Proteins
Endocrinology
FGFR1
Mutation
Female
medicine.symptom
business
anosmia
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics, 75(1), 65-71. Wiley, Clinical Genetics, 75, 1, pp. 65-71, Clinical Genetics, 75, 65-71
- Accession number :
- edsair.doi.dedup.....e8b1a6fad15fdace4c1300e539397fae