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学科主题: 临床医学
题名:
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients
作者: Gu, Wei-Jun1; Zhang, Qian1; Wang, Ying-Qian1; Yang, Guo-Qing1; Hong, Tian-Pei2; Zhu, Da-Long3; Yang, Jin-Kui4; Ning, Guang5; Jin, Nan1; Chen, Kang1; Zang, Li1; Wang, An-Ping1; Du, Jin1; Wang, Xian-Ling1; Yang, Li-Juan1; Ba, Jian-Ming1; Lv, Zhao-Hui1; Dou, Jing-Tao1; Mu, Yi-Ming1
关键词: Kallmann syndrome ; idiopathic hypogonadotropic hypogonadism ; KAL1 ; FGFR1 ; PROKR2 ; polygenic inheritance ; complex disease
刊名: EXPERIMENTAL BIOLOGY AND MEDICINE
发表日期: 2015-11-01
DOI: 10.1177/1535370215587531
卷: 240, 期:11, 页:1480-1489
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Medicine, Research & Experimental
研究领域[WOS]: Research & Experimental Medicine
关键词[WOS]: IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM ; HORMONE-RELEASING HORMONE ; CLINICAL-ASSESSMENT ; COMPLEX GENETICS ; PROKINETICIN 2 ; GENES ; DEFICIENCY ; ANOSMIN-1 ; FGFR1 ; PATHOPHYSIOLOGY
英文摘要:

Kallmann syndrome, a form of idiopathic hypogonadotropic hypogonadism, is characterized by developmental abnormalities of the reproductive system and abnormal olfaction. Despite association of certain genes with idiopathic hypogonadotropic hypogonadism, the genetic inheritance and expression are complex and incompletely known. In the present study, seven Kallmann syndrome pedigrees in an ethnic Han Chinese population were screened for genetic mutations. The exons and intron-exon boundaries of 19 idiopathic hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism)-related genes in seven Chinese Kallmann syndrome pedigrees were sequenced. Detected mutations were also tested in 70 sporadic Kallmann syndrome cases and 200 Chinese healthy controls. In pedigrees 1, 2, and 7, the secondary sex characteristics were poorly developed and the patients′ sense of smell was severely or completely lost. We detected a genetic mutation in five of the seven pedigrees: homozygous KAL1 p.R191ter (pedigree 1); homozygous KAL1 p.C13ter (pedigree 2; a novel mutation); heterozygous FGFR1 p.R250W (pedigree 3); and homozygous PROKR2 p.Y113H (pedigrees 4 and 5). No genetic change of the assayed genes was detected in pedigrees 6 and 7. Among the 70 sporadic cases, we detected one homozygous and one heterozygous PROKR2 p.Y113H mutation. This mutation was also detected heterozygously in 2/200 normal controls and its pathogenicity is likely questionable. The genetics and genotype-phenotype relationships in Kallmann syndrome are complicated. Classical monogenic inheritance does not explain the full range of genetic inheritance of Kallmann syndrome patients. Because of stochastic nature of genetic mutations, exome analyses of Kallmann syndrome patients may provide novel insights.

语种: 英语
所属项目编号: 2011ZX09307-001-08
项目资助者: Construction of Technical Platform for New Drug Development
WOS记录号: WOS:000364194600012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64376
Appears in Collections:北京大学第三临床医学院_内分泌科_期刊论文

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作者单位: 1.Chinese Peoples Liberat Army Gen Hosp, Dept Endocrinol, Beijing 100853, Peoples R China
2.Peking Univ, Hosp 3, Dept Endocrinol, Beijing 100191, Peoples R China
3.Nanjing Univ, Coll Med, Drum Tower Hosp, Dept Endocrinol, Nanjing 210008, Jiangsu, Peoples R China
4.Capital Med Univ, Beijing Tongren Hosp, Dept Endocrinol, Beijing 100730, Peoples R China
5.Shanghai Jiao Tong Univ, Sch Med, Dept Endocrinol, Ruijin Hosp, Shanghai 200025, Peoples R China

Recommended Citation:
Gu, Wei-Jun,Zhang, Qian,Wang, Ying-Qian,et al. Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients[J]. EXPERIMENTAL BIOLOGY AND MEDICINE,2015,240(11):1480-1489.
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