title: Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.
abstract: OBJECTIVE
  Among the 500 ABCA4 mutations identified so far in the retina-specific ABC transporter (ABCA4) gene, only 20 have been described in patients with autosomal recessive retinitis pigmentosa (arRP). In this study the gene was screened for mutations in a cohort of 25 patients of Spanish origin, to further assess ABCA4 involvement in retinal dystrophies.
  
  
  METHODS
  The 50 exons of the ABCA4 gene have been analyzed through denaturing high performance liquid chromatography (DHPLC) and direct sequencing of samples displaying altered elution profiles.
  
  
  RESULTS
  Four new and five known mutations were identified in our patients; except for one new deletion detected in a patient with Stargardt disease, all the remaining variations are single nucleotide substitutions resulting in missense mutations.
  
  
  CONCLUSIONS
  The results further underline the genetic heterogeneity of retinal disorders, suggesting that more than one gene could differentially contribute to at least some forms of retinal degeneration. Finding a high proportion of novel mutations merits the use of scanning methodologies to analyze the whole coding region of the ABCA4 gene.
authors.affiliation: Genomic Unit for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milano, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Stenirri
authors.forename: S
authors.initials: S
authors.lastname: Battistella
authors.forename: N
authors.initials: N
authors.lastname: Soriani
authors.forename: S
authors.initials: S
authors.lastname: Bernal
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: L
authors.initials: L
authors.lastname: Cremonesi
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005091:Exons; D006801:Humans; D015994:Incidence; D008268:Macular Degeneration / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000453:epidemiology / Q000235:genetics*; D012374:Rod Cell Outer Segment; D013030:Spain / Q000453:epidemiology
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D004247:DNA