A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome

Wen Xia Gu*, James S. Colquhoun-Kerr, Peter Kopp, Hans H. Bode, J. Larry Jameson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia. Autosomal dominant, autosomal recessive, and X-linked patterns of transmission have been described. The X-linked form of Kallmann syndrome (XLKS) is the least common of the three modes of inheritance and is caused by mutations in the putative cell adhesion protein, KAL-1. In a large pedigree with XLKS, direct sequencing of the KAL-1 gene revealed a duplication of 11 base pairs in exon 1, resulting in a frameshift and a premature stop at codon 34 of the 680 amino acid protein. The clinical features of the affected individuals in this pedigree provide further evidence in support of the idea that XLKS is associated with neurologic features that are not seen in other forms of the syndrome.

Original languageEnglish (US)
Pages (from-to)59-61
Number of pages3
JournalMolecular Genetics and Metabolism
Volume65
Issue number1
DOIs
StatePublished - Sep 1998

Keywords

  • Anosmia
  • Gene mutation
  • Hypogonadotropic hypogonadism
  • KAL-1 gene
  • Kallmann syndrome
  • X-chromosome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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