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AB132. The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome

ABSTRACT: 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. Conclusions 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.

SUBMITTER: Zhang S

PROVIDER: S-EPMC4708518 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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