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

doi:10.1006/mgme.1998.2732

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

Medicine, Endocrinology Division

Research output: Contribution to journal › Article › peer-review

23 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 language	English (US)
Pages (from-to)	59-61
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	65
Issue number	1
DOIs	https://doi.org/10.1006/mgme.1998.2732
State	Published - Sep 1998

Funding

We are grateful to Drs. John Achermann and Barry Gehm for helpful discussions and to Leah Sabacan, Eun Jig Lee, and Tom Kotlar for assistance with DNA sequencing. This work was performed as part of the National Cooperative Program for Infertility Research (NIH Grant U54-HD-29164).

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

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.",

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author = "Gu, {Wen Xia} and Colquhoun-Kerr, {James S.} and Peter Kopp and Bode, {Hans H.} and Jameson, {J. Larry}",

note = "Funding Information: We are grateful to Drs. John Achermann and Barry Gehm for helpful discussions and to Leah Sabacan, Eun Jig Lee, and Tom Kotlar for assistance with DNA sequencing. This work was performed as part of the National Cooperative Program for Infertility Research (NIH Grant U54-HD-29164).",

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doi = "10.1006/mgme.1998.2732",

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AU - Gu, Wen Xia

AU - Colquhoun-Kerr, James S.

AU - Kopp, Peter

AU - Bode, Hans H.

AU - Jameson, J. Larry

N1 - Funding Information: We are grateful to Drs. John Achermann and Barry Gehm for helpful discussions and to Leah Sabacan, Eun Jig Lee, and Tom Kotlar for assistance with DNA sequencing. This work was performed as part of the National Cooperative Program for Infertility Research (NIH Grant U54-HD-29164).

PY - 1998/9

Y1 - 1998/9

N2 - 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.

AB - 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.

KW - Anosmia

KW - Gene mutation

KW - Hypogonadotropic hypogonadism

KW - KAL-1 gene

KW - Kallmann syndrome

KW - X-chromosome

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

Abstract

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Keywords

ASJC Scopus subject areas

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