Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

Figure 1

Pedigrees of five unrelated patients with Stargardt disease. (a) In Family SG-01 patient II:1 had a (p.Arg1640Trp) and (p.Gly1961Glu) compound heterozygous mutation. (b) In Family SG-02, the patient II:1 had novel (p.Phe191Valfs42) and reported p.Gly172Ser mutation. (c) In Family SG-03, the affected individual had a homozygous mutation (p.Thr971Asn). (d) Patient (II:1) from family SG-04_II:1 had a novel stop codon (p.Tyr872X) and (p.Gly1961Glu) mutation. (e) Patient (V:1) from a five-generation Indian family (SG-05) had a reported homozygous mutation (p.Arg2149X) in ABCA4. The asterisk denotes the individuals were included for the genetic analysis. Arrows indicate the proband in each family.

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