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).