Figure 1. Novel TACSTD2 mutation in family 1

A: In this pedigree of the study family, M represents the mutant allele and + indicates the wild-type allele. The proband is marked by an arrow. In the family tree, squares indicate male and circles indicate female of the family members. Slashes denote family members who were deceased, whereas heavy shading means the individual who was affected by GDLD. Double lines represent consanguineous spouses. B: Sequence analysis of TACSTD2 gene near codon 28 detected in a healthy control. C: The sequence from proband A shows a homozygous insertion mutation, c.84insG (arrow). D: Double-wave peaks are seen after codon 28 (arrow) resulting from nonmatching of nucleotide sequence in two alleles of family member II:9.