title: Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt             macular degeneration.
abstract: Mutations in the ATP-binding cassette, subfamily A, member 4 (ABCA4), elongation             of very long chain fatty acids 4 (ELOVL4) and peripherin-2 (PRPH2) genes have             been identified in patients with Stargardt macular degeneration (STGD). The aim             of this study was to investigate which of these genes is responsible for susceptibility             in Chinese patients. A total of 41 probands with STGD or suspected STGD were enrolled             in the study. The coding regions and adjacent intronic sequences of the ELOVL4             and PRPH2 genes and 3 coding exons of the ABCA4 gene were amplified by polymerase             chain reaction (PCR). The nucleotide sequences of the amplicons were determined             by Sanger sequencing. Three novel heterozygous missense mutations in the ABCA4             gene were identified: c:2633C>A (p:Ser878X), c:5646G>A (p:Met1882Ile) and             c:6389T>A (p:Met2130Lys). These mutations were not present in 176 normal individuals             and were predicted to be pathogenic. Two benign variations were found: a reported             variation, c:5682G>C in ABCA4 and a novel variation, c:699G>A in ELOVL4.             In addition, 5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659,             rs434102 and c:929G>A) were detected in ELOVL4 and PRPH2. The c:929G>A variation             has not been previously reported. We conclude that no pathogenic variations in             ELOVL4 and PRPH2 were detected in the Chinese STGD patients. Our results imply             that ABCA4 is more likely to be significant in Chinese STGD patients.
authors.affiliation: Department of Ophthalmology, The Third Xiangya Hospital, Central-South University, Changsha, Hunan 410013, PR China.
authors.forename: Junhui
authors.initials: J
authors.lastname: Yi
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Panfeng
authors.initials: P
authors.lastname: Wang
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002681:China; D004198:Disease Susceptibility; D005091:Exons; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism; D008268:Macular Degeneration / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D064531:Peripherins; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; C418975:ELOVL4 protein, human; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins