Rare Diseases Symptoms Automatic Extraction

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

[kallmann syndrome]

To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS).Case report.University medical center.Two Chinese siblings.Clinical evaluation, hormone assays, and gene mutation research.Endocrinologic evaluation and genetic analysis.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.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.