Fig. 2

Chromatograms indicate nucleotide sequences of TMIE. A The c.122_125dup which is found in family 2 in exon 2 of TMIE. Duplicated nucleotides are indicated by red arrows and bracket B A missense substitution of the c.250C > T variant in exon 3 of TMIE is highlighted in blue. Affected probands are homozygous (Hom. for Variant), their parents are heterozygous (Het. for variant), and a normal control subject is homozygous (Hom. for Wild-type allele). C Electrophoretogram of the Multiplex-PCR products of a novel ~ 10-Kb deletion in family 1 is indicated on the left side. Lane 1: molecular weight markers, lanes 2 and 3: the homozygous deletions in probands IV.1 and IV.4, respectively, lanes 4–7: the heterozygous deletion in two normal sister, mother and father, respectively, lane 8: the homozygous for wild-type allele in a normal control subject, lane 9: NTC (No Template Control). A schematic depiction of the Multiplex-PCR assay for deletion genotyping is indicated on the right side. A 1111 bp PCR product is observed in subjects that have a ~ 10-kb allele deletion in exon one and its surrounding area of TMIE. A 184 bp PCR product is seen in subjects that have a Wild-type allele of TMIE