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Mutations in the ATP-binding cassette, subfamily A, member 4 (ABCA4), elongationof very long chain fatty acids 4 (ELOVL4) and peripherin-2 (PRPH2) genes havebeen identified in patients with Stargardt macular degeneration (STGD). The aimof this study was to investigate which of these genes is responsible for susceptibilityin Chinese patients. A total of 41 probands with STGD or suspected STGD were enrolledin the study. The coding regions and adjacent intronic sequences of the ELOVL4and PRPH2 genes and 3 coding exons of the ABCA4 gene were amplified by polymerasechain reaction (PCR). The nucleotide sequences of the amplicons were determinedby Sanger sequencing. Three novel heterozygous missense mutations in the ABCA4gene were identified: c:2633C&gt;A (p:Ser878X), c:5646G&gt;A (p:Met1882Ile) andc:6389T&gt;A (p:Met2130Lys). These mutations were not present in 176 normal individualsand were predicted to be pathogenic. Two benign variations were found: a reportedvariation, c:5682G&gt;C in ABCA4 and a novel variation, c:699G&gt;A in ELOVL4.In addition, 5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659,rs434102 and c:929G&gt;A) were detected in ELOVL4 and PRPH2. The c:929G&gt;A variationhas not been previously reported. We conclude that no pathogenic variations inELOVL4 and PRPH2 were detected in the Chinese STGD patients. Our results implythat ABCA4 is more likely to be significant in Chinese STGD patients.

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration