Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).
Hereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant disorder. It is characterised by recurrent episodes of focal neuropathy involving the brachial plexus. Genetic linkage analysis has mapped HNA to chromosome 17q25 within a 3.5-cM interval flanked by the short tandem repeat markers D17S785 and D17S802. Here, we report the mutation analysis of four candidate genes. Mutation analysis was performed on the complete coding regions of these genes. Several exonic and intronic single nucleotide polymorphisms were detected. However, no disease-causing mutations were found, indicating that these genes are most probably not involved in the pathogenesis of HNA. In addition, we have characterised and localised a putative pseudogene of the SEC14-like 1 gene.
Meuleman
J
J
Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium.
Kuhlenbäumer
G
G
Audenaert
D
D
Hünermund
G
G
Hor
H
H
Young
P
P
Stögbauer
F
F
Ringelstein
E B
EB
Van Broeckhoven
C
C
De Jonghe
P
P
Timmerman
V
V
D020968:Brachial Plexus Neuritis / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011544:Pseudogenes / Q000235:genetics; D058112:Septins; D012799:Sialyltransferases / Q000235:genetics; D013937:Thymidine Kinase / Q000235:genetics
D002352:Carrier Proteins; D005819:Genetic Markers; C100642:SEC14L1 protein, human; D012799:Sialyltransferases; C038525:CMP-N-acetylneuraminate-alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase; D013937:Thymidine Kinase; C092717:thymidine kinase 1; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins; C474315:SEPTIN9 protein, human; D058112:Septins