Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24.

Molecular genetic analysis in a Belgian family with distal hereditary motor neuropathy type II (distal HMN II), demonstrated significant linkage of markers located at chromosome 12q24. The candidate region, extending from D12S86 to D12S340, includes the gene encoding pancreatic phospholipase A2 (PPLA2). PPLA2 is a candidate gene for distal HMN II in this family since it is expressed in the peripheral nervous system during nerve degeneration. We analyzed the sequences of the four coding exons of the PPLA2 gene in two patients affected with distal HMN II and in two unrelated healthy individuals of the pedigree. Two rare polymorphisms in exon 3 and one intronic three-base pair insertion were observed in both the patients as well as the control individuals. However, no disease specific mutation within the coding region of PPLA2 could be identified, suggesting that the PPLA2 gene is most likely not the disease causing gene for distal HMN II in this Belgian family.