title: Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
abstract: OBJECTIVE
  To identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus.
  
  
  METHODS
  Affected individuals in both families underwent a thorough clinical examination including funduscopy and electroretinography. Blood samples were collected from all participating members and genomic DNA was extracted. Exclusion analysis was completed with microsatellite short tandem repeat markers that span all reported loci for fundus albipunctatus. Two-point logarithm of odds (LOD) scores were calculated, and coding exons and exon-intron boundaries of RLBP1 were sequenced bi-directionally.
  
  
  RESULTS
  The ophthalmic examination of affected patients in both families was consistent with fundus albipunctatus. The alleles of markers on chromosome 15q flanking RLBP1 segregated with the disease phenotype in both families and linkage was further confirmed by two-point LOD scores. Bi-directional sequencing of RLBP1 identified a nonsense mutation (R156X) and a missense mutation (G116R) that segregated with the disease phenotype in their respective families.
  
  
  CONCLUSIONS
  These results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.
authors: National Centre of Excellence in Molecular Biology, Lahore 53700, Pakistan.
authors: Shagufta
authors: S
authors: Naz
authors: Shahbaz
authors: S
authors: Ali
authors: S Amer
authors: SA
authors: Riazuddin
authors: Tahir
authors: T
authors: Farooq
authors: Nadeem H
authors: NH
authors: Butt
authors: Ahmad U
authors: AU
authors: Zafar
authors: Shaheen N
authors: SN
authors: Khan
authors: Tayyab
authors: T
authors: Husnain
authors: Ian M
authors: IM
authors: Macdonald
authors: Paul A
authors: PA
authors: Sieving
authors: J Fielding
authors: JF
authors: Hejtmancik
authors: Sheikh
authors: S
authors: Riazuddin
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009755:Night Blindness / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics*; D014792:Visual Acuity / Q000235:genetics; D055815:Young Adult
chemical_list: C020932:11-cis-retinal-binding protein; D002352:Carrier Proteins