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Fig. 1 | BMC Ophthalmology

Fig. 1

From: Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

Fig. 1

Family pedigree and DNA sequence of the proband (III:1). a Pedigree of the Chinese family with RPGR. Filled squares represent the affected individuals. Empty symbols represent the unaffected individuals, whereas empty symbols with black dot represent the carriers. All patients (II:3, III:1, III:2, and III:5) were identified as carrying hemizygous nonsense mutation (c.2383G > T, p.E795X) of RPGR in X chromosome. The members (II:2 and II:4) were identified carriers of the mutation. The members (I:2, III:3 and III:4) were inferred as carriers of the mutation. b DNA sequencing trace of the carriers (II:2 and II:4) and patients (II:3, III:1, III:2, and III:5) had the novel hemizygous nonsense mutation (c.2383G > T, p.E795X) of RPGR

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BMC Ophthalmology

ISSN: 1471-2415

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