Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.
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.
Hünermund
Gert
G
Department of Neurology, University of Münster, Albert Schweitzer Strasse 33, 48129 Münster, Germany.
Schirmacher
Anja
A
Ringelstein
Bernd
B
Young
Peter
P
Watts
Giles D
GD
Meuleman
Jan
J
Nelis
Eva
E
Chance
Phillip F
PF
Timmerman
Vincent
V
Stögbauer
Florian
F
Kuhlenbäumer
Gregor
G
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
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