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.
authors.affiliation: Department of Neurology, University of Münster, Albert Schweitzer Strasse 33, 48129 Münster, Germany.
authors.forename: Gert
authors.initials: G
authors.lastname: Hünermund
authors.forename: Anja
authors.initials: A
authors.lastname: Schirmacher
authors.forename: Bernd
authors.initials: B
authors.lastname: Ringelstein
authors.forename: Peter
authors.initials: P
authors.lastname: Young
authors.forename: Giles D
authors.initials: GD
authors.lastname: Watts
authors.forename: Jan
authors.initials: J
authors.lastname: Meuleman
authors.forename: Eva
authors.initials: E
authors.lastname: Nelis
authors.forename: Phillip F
authors.initials: PF
authors.lastname: Chance
authors.forename: Vincent
authors.initials: V
authors.lastname: Timmerman
authors.forename: Florian
authors.initials: F
authors.lastname: Stögbauer
authors.forename: Gregor
authors.initials: G
authors.lastname: Kuhlenbäumer
mesh_terms: D019943:Amino Acid Substitution; D020968:Brachial Plexus Neuritis / Q000235:genetics*; D000078842:Cytoglobin; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D015698:Genomic Library; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*; D000099157:Sphingosine Kinase
chemical_list: D000078842:Cytoglobin; D018076:DNA, Complementary; D005914:Globins; D017853:Phosphotransferases (Alcohol Group Acceptor); D019716:Tissue Inhibitor of Metalloproteinase-2; D000099157:Sphingosine Kinase; C000627265:CYGB protein, human