Fig. 2

Mutations in UNC13D gene. a novel splicing mutation (c.1299-1G > A) in UNC13D-exon15, showed with sequences of the complementary strand. b reported splicing mutation (c.2709 + 1G > A) in UNC13D-exon28. Sanger sequencing results of the 18-years-old female patient (underside), her father (top left) and her mother (top right). Mutation position is marked with red arrow. The results show the former was inherited from father while mother has a wild-type locus. In contrast, the latter was inherited from mother, who has a same heterozygous mutation on the locus