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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

Fig. 1

The pedigrees and genotypes of 5 Chinese families with congenital autosomal dominant cataracts. The probands are indicated with an arrow. Squares and circles symbolize male and female individuals respectively. Black symbols indicate affected members and blank symbols indicate unaffected individuals. Asterisks indicate sequenced samples. “+/+” indicates wild-type and “+/−” indicates heterozygote. (a) Pedigree of Family 1, all patients carried the heterozygous mutation c.154 T > C in GJA8. (b) Pedigree of Family 2, all patients carried the heterozygous mutation c.1152_1153insG in GJA3. (c) Pedigree of Family 3, all patients carried the heterozygous mutation c.1804G > C in BFSP1. (d) Pedigree of Family 4, all patients carried the heterozygous mutation c.1532C > T in EPHA2. (E) Pedigree of Family 5, all patients carried the heterozygous mutation c.356G > A in HSF4

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BMC Medical Genetics

ISSN: 1471-2350

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