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Fig. 2 | BMC Medical Genetics

Fig. 2

From: X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review

Fig. 2

GJA8 and FRMD7 mutations in this family. a and c The GJA8 heterozygous mutation c.139G > C was found in all patients and likely is responsible for the autosomal dominant pattern of inheritance of congenital cataracts in this family. b and d The FRMD7 splicing variant c.498-3C > T was found in I:1, III:1 and III:3; thus, this variant likely plays a role in CN’s X-Linked recessive inheritance

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BMC Medical Genetics

ISSN: 1471-2350

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