Figure 4.

Pedigree and Sanger sequencing analysis of families with variants in (A) α crystallins (CRYAA); (B) β and γ crystallins (CRYBB2, CRYGA, and CRYGS). The penetrance of mutations in family CRCH139 (CRYGA, c.239G > A) is incomplete. The variants in PVRL3 in CRCH139 do not segregate with the phenotype. The segregating variant in BFAP2 in CRVEEH85 was predicted to be nonpathogenic by both SIFT and Polyphen-2. The arrowheads indicate the proband sequenced on the gene panel by AmpliSeq. Solid circles indicate affected females and solid squares show the affected males. Diagonal lines indicate the person is deceased. The chromatograms below each pedigree show the Sanger sequencing result of each detected variant in family members. The gene names and mutation at cDNA and protein level have been mentioned on each pedigree.