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The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome

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单位: [1]Huazhong Univ Sci & Technol,TongJi Med Coll,TongJi Hosp,Dept Urol,Wuhan 430074,Hubei,Peoples R China [2]Southern Med Univ, Foshan Maternal & Child Hlth Hosp, Dept Urol, Foshan 528000, Guangdong, Peoples R China
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关键词: KAL1 Kallmann syndrome male infertility mutation SNP

摘要:
Objective: To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). Design: Case report. Setting: University medical center. Patient(s): Two Chinese siblings. Intervention(s): Clinical evaluation, hormone assays, and gene mutation research. Main Outcome Measure(s): Endocrinologic evaluation and genetic analysis. Result(s): A missense mutation of KAL1, c.1828G>A, led to pVal610Ile substitution in two brothers with KS; their mother is heterozygous for this missense mutation encoded by single-nucleotide polymorphism rs2229013. Conclusion(s): Mutation analysis revealed that a missense mutation of KAL1 in two brothers with KS, while their mother was heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013. Variant alleles of KAL1 related to X-linked recessive KS expand the spectrum of KAL1 mutations causing KS. ((c) 2013 by American Society for Reproductive Medicine.)

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出版当年[2012]版:
大类 | 2 区 医学
小类 | 1 区 妇产科学 2 区 生殖生物学
最新[2025]版:
大类 | 1 区 医学
小类 | 1 区 妇产科学 1 区 生殖生物学
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出版当年[2011]版:
Q1 OBSTETRICS & GYNECOLOGY Q1 REPRODUCTIVE BIOLOGY
最新[2024]版:
Q1 OBSTETRICS & GYNECOLOGY Q1 REPRODUCTIVE BIOLOGY

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第一作者单位: [1]Huazhong Univ Sci & Technol,TongJi Med Coll,TongJi Hosp,Dept Urol,Wuhan 430074,Hubei,Peoples R China [2]Southern Med Univ, Foshan Maternal & Child Hlth Hosp, Dept Urol, Foshan 528000, Guangdong, Peoples R China
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通讯机构: [1]Huazhong Univ Sci & Technol,TongJi Med Coll,TongJi Hosp,Dept Urol,Wuhan 430074,Hubei,Peoples R China [2]Southern Med Univ, Foshan Maternal & Child Hlth Hosp, Dept Urol, Foshan 528000, Guangdong, Peoples R China
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