Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract

Figure 3

Sanger sequencing of PITX3 gene mutation. (a) The PITX3 gene mutation was not detected in healthy individuals in the family (reference transcript: NM_005029), and the heterozygous mutation c.640_656dup (p.G220Pfs95) was detected in the affected individuals, with 17 bp inserted at 657 bp position (as shown in the box). (b) The duplication of 17 bp fragment in the PITX3 gene c.640_656dup (p.G220Pfs95) results in a frameshift starting from 220 amino acid position and a 313aa aberrant protein.

(a)

(b)