Titre
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Känsäkoski, J.
Auteure/Auteur
Fagerholm, R.
Auteure/Auteur
Laitinen, E.M.
Auteure/Auteur
Vaaralahti, K.
Auteure/Auteur
Hackman, P.
Auteure/Auteur
Pitteloud, N.
Auteure/Auteur
Raivio, T.
Auteure/Auteur
Tommiska, J.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1530-0447
Statut éditorial
Publié
Date de publication
2014
Volume
75
Numéro
5
Première page
641
Dernière page/numéro d’article
644
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish
Résumé
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.
PID Serval
serval:BIB_2E0D0654A638
PMID
Open Access
Oui
Date de création
2014-05-23T16:11:42.105Z
Date de création dans IRIS
2025-05-20T13:20:00Z