title: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
abstract: OBJECTIVE
  Stargardt disease (STGD) is the most prevalent juvenile macular dystrophy, and it has been associated with mutations in the ABCR gene, encoding a photoreceptor-specific transport protein. In this study, we determined the mutation spectrum in the ABCR gene in a group of Italian STGD patients.
  
  
  METHODS
  The DNA samples of 71 Italian patients (from 62 independent pedigrees), affected with autosomal recessive STGD, were analysed for mutations in all 50 exons of the ABCR gene by the DHPLC approach (with optimization of the DHPLC conditions for mutation analysis) and direct sequencing techniques.
  
  
  RESULTS
  In our group of STGD patients, 71 mutations were identified in 68 patients with a detection rate of 95.7%. Forty-three mutations had been already reported in the literature, whereas 28 mutations had not been previously described and were not detected in 150 unaffected control individuals of Italian origin. Missense mutations represented the most frequent finding (59.2%); G1961E was the most common mutation and it was associated with phenotypes in various degrees of severity.
  
  
  CONCLUSIONS
  Some novel mutations in the ABCR gene were reported in a group of Italian STGD patients confirming the extensive allelic heterogeneity of this gene-probably related to the vast number of exons that favours rearrangements in the DNA sequence.
authors.affiliation: Department of Genetic Diagnosis, Careggi Universitary Hospital, Florence, Italy. ilariapasserini@libero.it
authors.forename: I
authors.initials: I
authors.lastname: Passerini
authors.forename: A
authors.initials: A
authors.lastname: Sodi
authors.forename: B
authors.initials: B
authors.lastname: Giambene
authors.forename: A
authors.initials: A
authors.lastname: Mariottini
authors.forename: U
authors.initials: U
authors.lastname: Menchini
authors.forename: F
authors.initials: F
authors.lastname: Torricelli
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008268:Macular Degeneration / Q000151:congenital / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D017422:Sequence Analysis, DNA; D000080362:Stargardt Disease; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters