The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome
A missense mutation of KAL1, c.1828G>A, led to pVal610Ile substitution in two brothers with Kallmann syndrome; their mother is heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013.
Shilin Zhang,M.D., Hao Xu, M.S., Tao Wang, M.D., Guoqing Liu, M.D., Jihong Liu, M.D.
Volume 99, Issue 6, Pages 1720-1723, May 2013
To present clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive KS.
University medical center.
Two Chinese siblings.
Clinical evaluation, hormone assays, gene mutation research.
Main Outcome Measure(s):
Endocrinologic evaluation and genetic analysis.
A missense mutation of KAL1, c.1828G﹥A, which lead to pVal610Ile substitution in the two brothers with KS while their mother was heterozygous for this missense mutation encoded by SNP 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.