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学科主题临床医学
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients
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
2015-11-01
DOI10.1177/1535370215587531
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
WOS记录号WOS:000364194600012
引用统计
被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64376
专题北京大学第三临床医学院_内分泌科
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
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GB/T 7714
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.
APA Gu, Wei-Jun.,Zhang, Qian.,Wang, Ying-Qian.,Yang, Guo-Qing.,Hong, Tian-Pei.,...&Mu, Yi-Ming.(2015).Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.EXPERIMENTAL BIOLOGY AND MEDICINE,240(11),1480-1489.
MLA Gu, Wei-Jun,et al."Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients".EXPERIMENTAL BIOLOGY AND MEDICINE 240.11(2015):1480-1489.
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