title: A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
abstract: OBJECTIVE
  To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family.
  
  
  METHODS
  All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and logarithm of odds (LOD) scores were calculated.
  
  
  RESULTS
  The clinical records and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Maximum LOD scores of 5.01, 4.38, and 4.17 at theta=0 were obtained with markers D7630, D7S657, and D7S515, respectively. Fine mapping refined the critical interval and suggested that markers in a 27.78 cM (27.96 Mb) interval are flanked by markers D7S660 and D7S799, which co-segregate with the disease phenotype in family PKCC108.
  
  
  CONCLUSIONS
  We have identified a new locus for autosomal recessive congenital cataract, localized to chromosome 7q21.11-q31.1 in a consanguineous Pakistani family.
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
authors.forename: Haiba
authors.initials: H
authors.lastname: Kaul
authors.forename: S Amer
authors.initials: SA
authors.lastname: Riazuddin
authors.forename: Afshan
authors.initials: A
authors.lastname: Yasmeen
authors.forename: Sadia
authors.initials: S
authors.lastname: Mohsin
authors.forename: Mohsin
authors.initials: M
authors.lastname: Khan
authors.forename: Idrees A
authors.initials: IA
authors.lastname: Nasir
authors.forename: Shaheen N
authors.initials: SN
authors.lastname: Khan
authors.forename: Tayyab
authors.initials: T
authors.lastname: Husnain
authors.forename: Javed
authors.initials: J
authors.lastname: Akram
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005190:Family; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D056426:Genetic Loci / Q000235:genetics*; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D010154:Pakistan; D010375:Pedigree