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Figure 1 | Human Genomics

Figure 1

From: Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Figure 1

Mutation analysis of inherited cataract in family A. (A) Pedigree of family A. Squares denote males, circles denote females, and filled symbols denote affected status. The trio of individuals I:1, I:2, and II:1 was subject to exome sequencing. (B) Photograph of coralliform lens opacities in the left eye of individual II:2 just prior to surgery at 3 months of age. (C) Sanger sequence of CRYGD showing the heterozygous c.70 C > A and p.Pro24Thr mutation found in affected individuals I:2, II:1, and II:2 (upper trace) but not in the unaffected spouse I:1 (lower trace). Horizontal bars indicate the codon reading frame. (D) Amino acid alignment of CRYGD showing low cross-species conservation of Pro24.

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Human Genomics

ISSN: 1479-7364