Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.

Details

Serval ID
serval:BIB_2E0D0654A638
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
Journal
Pediatric Research
Author(s)
Känsäkoski J., Fagerholm R., Laitinen E.M., Vaaralahti K., Hackman P., Pitteloud N., Raivio T., Tommiska J.
ISSN
1530-0447 (Electronic)
ISSN-L
0031-3998
Publication state
Published
Issued date
2014
Peer-reviewed
Oui
Volume
75
Number
5
Pages
641-644
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish
Abstract
Background:Congenital hypogonadotropic hypogonadism (HH), a rare disorder characterized by absent, partial, or delayed puberty, can be caused by the lack or deficient number of hypothalamic gonadotropin-releasing hormone (GnRH) neurons. SEMA3A was recently implicated in the etiology of the disorder, and Sema7A-deficient mice have a reduced number of GnRH neurons in their brains.Methods:SEMA3A and SEMA7A were screened by Sanger sequencing in altogether 50 Finnish HH patients (34 with Kallmann syndrome (KS; HH with hyposmia/anosmia) and 16 with normosmic HH (nHH)). In 20 patients, mutation(s) had already been found in genes known to be implicated in congenital HH.Results:Three heterozygous variants (c.458A>G (p.Asn153Ser), c.1253A>G (p.Asn418Ser), and c.1303G>A (p.Val435Ile)) were found in SEMA3A in three KS patients, two of which also had a mutation in FGFR1. Two rare heterozygous variants (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln)) in SEMA7A were found in one male nHH patient with a previously identified KISS1R nonsense variant and one male KS patient with a previously identified mutation in KAL1, respectively.Conclusion:Our results suggest that heterozygous missense variants in SEMA3A and SEMA7A may modify the phenotype of KS but most likely are not alone sufficient to cause the disorder.
Pubmed
Web of science
Open Access
Yes
Create date
23/05/2014 17:11
Last modification date
20/08/2019 13:12
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