Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicingfactor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA)

HNA is an autosomal dominant recurrent focal neuropathy involving the brach ial plexus. The etiology of HNA is unknown but the genetic defect most like ly affects a non-neuronal tissue. We previously described linkage to chromo some 17q24-q25 in two HNB-families. Here we report the mutation analysis of two candidate genes: a cDNA encoding a putative sialyltransferase and the SFRS2 splicing factor including the c-myb ET-locus which is encoded on the opposite strand of the SFRS2 gene. The complete protein coding regions of b oth genes were studied by direct DNA sequencing. We did not find a disease associated mutation indicating that these genes are most likely not involve d in the pathogenesis of HNA. However, me identified and characterized a ra re AvaII polymorphism in the SFRS2 gene and detected a sequencing error, le ading to an amino acid change (Val11Leu) in the published sequence of the p utative sialyltransferase.