Figure 2. Novel TACSTD2 mutation in the study family. A: Pedigree of the study family is shown. In the family tree, squares indicate male and circles indicate female. Slash denote family member who are deceased whereas heavy shading denote the individuals who are affected by GDLD. The arrow indicates the proband. B: The sequence from the proband, which is at the top, shows a 51 bp deletion between nucleotides 526 and 576 in the coding region of TACSTD2. This homozygous mutation was exclusively detected in affected family members. The normal sequence of TACSTD2 near codon 176 is shown at the bottom. C: The mutation was also detected by polymerase chain reaction-restriction length fragment polymorphism (PCR-RFLP). Lane 1, Sample from unaffected control individual; lanes 2 through 4, samples from family members; lane 5, uncut amplicons. D: Heterozygous mutation in TACSTD2 was detected in the study family. Sequence of the TACSTD2 gene around codon 257 in the proband shows heterozygous 772–783del(ATCTATTACCTG)+772insT. Double-wave peaks were seen after codon 257 in sense strands or after codon 262 in antisense strands resulting from non-matching of nucleotide sequence in two alleles (top). Sequence analysis of TACSTD2 near codon 257 in sense or codon 262 in antisense strands detected in a healthy control (bottom).