Premium
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy
Author(s) -
Hünermund Gert,
Schirmacher Anja,
Ringelstein Bernd,
Young Peter,
Watts Giles D.,
Meuleman Jan,
Nelis Eva,
Chance Phillip F.,
Timmerman Vincent,
Stögbauer Florian,
Kuhlenbäumer Gregor
Publication year - 2004
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20009
Subject(s) - genetics , biology , gene , mutation , single nucleotide polymorphism , candidate gene , genotype
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. Muscle Nerve 29: 601–604, 2004