title: 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).
  
  
  METHODS
  Case report.
  
  
  METHODS
  University medical center.
  
  
  METHODS
  Two Chinese siblings.
  
  
  METHODS
  Clinical evaluation, hormone assays, and gene mutation research.
  
  
  METHODS
  Endocrinologic evaluation and genetic analysis.
  
  
  RESULTS
  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.
authors: Department of Urology, TongJi Hospital, TongJi Medical College, Huazhong University of Science and Technology, Hubei, Wuhan, People's Republic of China. zhang_40_1@163.com
authors: Shilin
authors: S
authors: Zhang
authors: Hao
authors: H
authors: Xu
authors: Tao
authors: T
authors: Wang
authors: Guoqing
authors: G
authors: Liu
authors: Jihong
authors: J
authors: Liu
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D017436:Kallmann Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins