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Figure 2 | Human Genomics

Figure 2

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

Figure 2

Mutation analysis of inherited cataract in family B and family C. (A) Pedigree of family B. The trio of individuals I:1, I:2, and II:1 was subject to exome sequencing. (B) Sanger sequence of GJA8 showing the heterozygous c.20 T > C, and p.Leu7Pro mutation found in affected individuals I:1, II:1, II:2, and II:3 but not in the affected spouse I:2 (lower trace). Horizontal bars indicate the codon reading frame. (C) Amino acid alignment of GJA8 showing high cross-species conservation of Leu7. (D) Pedigree showing family C. The trio of individuals I:1, I:2, and II:2 was subject to exome sequencing. (E) Sanger sequence of GJA8 showing the heterozygous c. 293A > C and p.His98Pro mutation found in affected individuals I:1 and II:2 (upper trace) but not in the unaffected individuals I:2 and II:1 (lower trace). Horizontal bars indicate the codon reading-frame. (F) Amino acid alignment of GJA8 showing high cross-species conservation of His98.

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Human Genomics

ISSN: 1479-7364