Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

Gert Hünermund; Anja Schirmacher; Bernd Ringelstein; Peter Young; Giles D Watts; Jan Meuleman; Eva Nelis; Phillip F Chance; Vincent Timmerman; Florian Stögbauer; Gregor Kuhlenbäumer

doi:10.1002/mus.20009

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

Gert Hünermund, Anja Schirmacher, Bernd Ringelstein, Peter Young, Giles D Watts, Jan Meuleman, Eva Nelis, Phillip F Chance, Vincent Timmerman, Florian Stögbauer, Gregor Kuhlenbäumer

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

2 Citations (Scopus)

Abstract

Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant inherited recurrent focal neuropathy affecting mainly the brachial plexus. In this study we report the genomic structure and mutation analysis of three candidate genes: sphingosine kinase 1 (SPHK1); tissue inhibitor of metalloproteinase 2 (TIMP2); and cytoglobin (CYGB). We did not find any disease-associated mutations, indicating that HNA is not caused by point mutations in these genes. However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms.

Original language	English
Pages (from-to)	601-4
Number of pages	4
Journal	Muscle & Nerve
Volume	29
Issue number	4
DOIs	https://doi.org/10.1002/mus.20009
Publication status	Published - Apr 2004

Keywords

Amino Acid Substitution
Brachial Plexus Neuritis
DNA Mutational Analysis
DNA, Complementary
Exons
Genetic Testing
Genomic Library
Globins
Humans
Molecular Sequence Data
Phosphotransferases (Alcohol Group Acceptor)
Point Mutation
Polymorphism, Single Nucleotide
Tissue Inhibitor of Metalloproteinase-2

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10.1002/mus.20009

Cite this

@article{8194d0dc9ecb480f9cbe1bd07b731b2d,

title = "Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy",

abstract = "Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant inherited recurrent focal neuropathy affecting mainly the brachial plexus. In this study we report the genomic structure and mutation analysis of three candidate genes: sphingosine kinase 1 (SPHK1); tissue inhibitor of metalloproteinase 2 (TIMP2); and cytoglobin (CYGB). We did not find any disease-associated mutations, indicating that HNA is not caused by point mutations in these genes. However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms.",

keywords = "Amino Acid Substitution, Brachial Plexus Neuritis, DNA Mutational Analysis, DNA, Complementary, Exons, Genetic Testing, Genomic Library, Globins, Humans, Molecular Sequence Data, Phosphotransferases (Alcohol Group Acceptor), Point Mutation, Polymorphism, Single Nucleotide, Tissue Inhibitor of Metalloproteinase-2",

author = "Gert H{\"u}nermund and Anja Schirmacher and Bernd Ringelstein and Peter Young and Watts, {Giles D} and Jan Meuleman and Eva Nelis and Chance, {Phillip F} and Vincent Timmerman and Florian St{\"o}gbauer and Gregor Kuhlenb{\"a}umer",

year = "2004",

month = apr,

doi = "10.1002/mus.20009",

language = "English",

volume = "29",

pages = "601--4",

journal = "Muscle & Nerve",

issn = "0148-639X",

publisher = "Wiley",

number = "4",

}

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy. / Hünermund, Gert; Schirmacher, Anja; Ringelstein, Bernd; Young, Peter; Watts, Giles D; Meuleman, Jan; Nelis, Eva; Chance, Phillip F; Timmerman, Vincent; Stögbauer, Florian; Kuhlenbäumer, Gregor.

In: Muscle & Nerve, Vol. 29, No. 4, 04.2004, p. 601-4.

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

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T1 - Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

AU - Hünermund, Gert

AU - Schirmacher, Anja

AU - Ringelstein, Bernd

AU - Young, Peter

AU - Watts, Giles D

AU - Meuleman, Jan

AU - Nelis, Eva

AU - Chance, Phillip F

AU - Timmerman, Vincent

AU - Stögbauer, Florian

AU - Kuhlenbäumer, Gregor

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AB - Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant inherited recurrent focal neuropathy affecting mainly the brachial plexus. In this study we report the genomic structure and mutation analysis of three candidate genes: sphingosine kinase 1 (SPHK1); tissue inhibitor of metalloproteinase 2 (TIMP2); and cytoglobin (CYGB). We did not find any disease-associated mutations, indicating that HNA is not caused by point mutations in these genes. However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms.

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KW - Genetic Testing

KW - Genomic Library

KW - Globins

KW - Humans

KW - Molecular Sequence Data

KW - Phosphotransferases (Alcohol Group Acceptor)

KW - Point Mutation

KW - Polymorphism, Single Nucleotide

KW - Tissue Inhibitor of Metalloproteinase-2

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DO - 10.1002/mus.20009

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