PMC5204459_01
Compound heterozygous mutations in ABCA4 identified in the STGD family. A: The Chinese Stargardt disease pedigree and the complete cosegregation pattern of the compound heterozygous mutations in ABCA4. B: The fundus images of both of the proband's eyes showed yellow flecks on the retina and macular atrophy. C: Sanger sequencing results for the two mutations. D: Multiple alignment of ABCA4 indicated p.M1882 is highly conserved. m1: c.3523-2A>G; m2: c.5646G>A, p.M1882I; square: male; circle: female; filled symbol: patient; unfilled symbol: unaffected member; black arrow: the proband; R: right eye; L: left eye.
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Ophthalmoscopy showed atrophic and pigmentary changes in the macular area and some evident yellow flecks (Figure 1B). The proband's unaffected father and healthy sister both harbored the splice-site mutation only, while the unaffected daughter of K206-1 had only the missense mutation, demonstrating that these two mutations were compound heterozygous and completely segregated with the disorder (Figure 1A,C). The mutation was predicted to damage the protein function by online programs including MutationTaster, SIFT, PolyPhen2, and SNP&GO, and was highly conserved among various species (Figure 1D, Table 2).