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

Details

Serval ID
serval:BIB_22A4268F92B4
Type
Article: article from journal or magazin.
Collection
Publications
Title
A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome.
Journal
Molecular genetics and metabolism
Author(s)
Gu W.X., Colquhoun-Kerr J.S., Kopp P., Bode H.H., Jameson J.L.
ISSN
1096-7192 (Print)
ISSN-L
1096-7192
Publication state
Published
Issued date
09/1998
Peer-reviewed
Oui
Volume
65
Number
1
Pages
59-61
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, U.S. Gov't, P.H.S.
Publication Status: ppublish
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.
Keywords
Female, Frameshift Mutation, Genetic Linkage, Humans, Infant, Newborn, Kallmann Syndrome/genetics, Male, Pedigree, X Chromosome
Pubmed
Web of science
Create date
30/12/2020 15:29
Last modification date
31/12/2020 6:26
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