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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile

Fig. 2

A novel autosomal recessive mutation in the BEST1 gene c.646G > A (p.V216I) was identified in the family. a The results of family separation and analysis showed that the proband (V6), her fifth sister (V5), and her younger sister (V7) carry the homozygous variation. The grandmother (III-1), father (IV1), mother (IV2), and son (VI1) of the proband, her fourth sister (V4), and the son (VI2) of her younger sister carry the heterozygosity. The first sister (V1), the second sister (V2), and the third sister (V3) of the proband carry the wild-type gene. b Pedigree. Square symbols denote males, circle symbols denote females, solid symbols indicate the affected, open symbols indicate the unaffected, slash symbols indicate the deceased, an arrow below the symbol indicates the proband, = indicates consanguinity, and + indicates the wild type

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BMC Medical Genetics

ISSN: 1471-2350

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