Fig. 1: Pedigrees and sequence analysis.
From: Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts
a Family A: Abridged pedigree with nuclear cataract; Family B: Abridged pedigree with nuclear cataract. The diagonal line indicates a deceased family member. Squares and circles symbolise males and females, respectively. Open and filled symbols indicate unaffected and affected individuals, respectively. Diamond symbolises-number of unaffected siblings grouped together. The arrow indicates the family members who participated in the WES analysis. All the available members in the family were sequenced to show the segregation. b Sequence analysis of (a): PAX6–missense variant c.184 G>A in affected member of family A with nuclear cataract; (c) PITX3-a frameshift variant at c.470–477dup in an affected member of family B with nuclear cataract; (d) HSF4- missense variant c.341 T>C in an affected individual with congenital cataract.
