Skip to main content
Fig. 3 | BMC Medical Genetics

Fig. 3

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

Fig. 3

The potential causative mutations were identified in five Chinese families with congenital cataract. (a) The heterozygous mutation c.154 T > C(p.F52 L) in GJA8 was identified in all the affected participants in the Family 1. (b) The heterozygous mutation c.1152_1153insG(p.S385Efs*83) in GJA3 was identified in all the affected participants in the Family 2. (c) The heterozygous mutation c.1804G > C(p.G602R) in BFSP1 was identified in all the affected participants in the Family 3. (d) The heterozygous mutation c.1532C > T(p.T511 M) in EPHA2 was identified in all the affected participants in the Family 4. (e) The heterozygous mutation c.356G > A(p.R119H) in HSF4 was identified in all the affected participants in the Family 5

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us