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 journalArticle

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 languageEnglish
Pages (from-to)601-4
Number of pages4
JournalMuscle & Nerve
Volume29
Issue number4
DOIs
Publication statusPublished - 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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