"A novel variant (NM_003560.2 c.1427 + 2 T > C) acting on a splice donor site and predicted to lead to skipping of exon 10 was found in PLA2G6 in two siblings diagnosed with infantile neuroaxonal dystrophy. This mutation seems to be pathogenic and was found in a homozygous state in the two patients and homozygous reference or heterozygous in five healthy family members."xsd:string