title: Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.
abstract: BACKGROUND
  Pediatric cataract is an important preventable blinding disease. Previous studies have estimated 10-25% of cases to be genetic in etiology.
  
  
  METHODS
  In an effort to characterize the genetics of cataract in our population, we have conducted a comprehensive clinical and genomic analysis (including autozygome and exome analysis) on a series of 38 index patients.
  
  
  RESULTS
  Pediatric cataract is genetic in at least 79% of the study families. Although crystallins accounted for most of the mutant alleles, mutations in other genes were encountered, including recessive mutations in genes that usually cause the disease in a dominant manner. In addition, several novel candidate genes (MFSD6L, AKR1E2, RNLS, and CYP51A1) were identified.
  
  
  CONCLUSIONS
  Pediatric cataract is typically a genetic disease, usually autosomal recessive, in Saudi Arabia. Although defining a specific cataract phenotype can sometimes predict the genetic cause, genomic analysis is often required to unravel the causative mutation given the marked genetic heterogeneity. The identified novel candidate genes require independent confirmation in future studies.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Aldahmesh
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
authors.forename: Jawahir Y
authors.initials: JY
authors.lastname: Mohamed
authors.forename: Hadia
authors.initials: H
authors.lastname: Hijazi
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Alswaid
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D002386:Cataract / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D059472:Exome; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D018703:Founder Effect; D056726:Genetic Association Studies; D015894:Genome, Human; D006720:Homozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008297:Male; D008869:Microtubule-Associated Proteins; D008995:Monoamine Oxidase / Q000235:genetics; D020125:Mutation, Missense; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D036104:Receptor, EphA2 / Q000235:genetics; D012529:Saudi Arabia; D058886:Sterol 14-Demethylase / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D038206:beta-Crystallin B Chain / Q000235:genetics
chemical_list: C105601:CRYBB1 protein, human; C548418:CYP51A1 protein, human; D004268:DNA-Binding Proteins; D005136:Eye Proteins; C460141:FYCO1 protein, human; D007381:Intermediate Filament Proteins; D008869:Microtubule-Associated Proteins; D014157:Transcription Factors; D038206:beta-Crystallin B Chain; C084808:phakinin; D058886:Sterol 14-Demethylase; D008995:Monoamine Oxidase; C521557:renalase; D017351:N-Acetylglucosaminyltransferases; D036104:Receptor, EphA2