Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism-Reference-Cited by-同舟云学术

Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism

Published:2017-01-01 Issue:10 Volume:30 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Aoyama Kohei,Mizuno Haruo,Tanaka Tatsushi,Togawa Takao,Negishi Yutaka,Ohashi Kei,Hori Ikumi,Izawa Masako,Hamajima Takashi,Saitoh Shinji

Abstract

AbstractBackground:Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH.Methods:We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing.Results:We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation inConclusions:The frequency of CHH genes in the Japanese was compatible with previous reports, except that

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2017-0035/pdf

Reference50 articles.

1. A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome;J Hum Genet,2000

2. A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome;J Hum Genet,2000

3. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency;Proc Natl Acad Sci USA,2010

4. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients;J Clin Endocrinol Metab,2014

5. CHARGE syndrome;Orphanet J Rare Dis,2006

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