title: A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
abstract: OBJECTIVE
  To determine the genetic basis of early onset autosomal recessive Best vitelliform macular dystrophy (arBVMD) in a family with three affected children.
  
  
  METHODS
  Clinical and family-based genetic study.
  
  
  METHODS
  Seven subjects making up a family with three children affected by Best vitelliform macular dystrophy were studied. Standard ophthalmic exam with dilated ophthalmoscopy and imaging were performed in each individual. The eleven exons of BEST1 were directly sequenced.
  
  
  RESULTS
  All three affected children have the clinical characteristic features of Best vitelliform macular dystrophy: large macular vitelliform lesions, scattered vitelliform lesions along the arcades and in the peripheral retina, and an accumulation of serous retinal fluid. A novel compound heterozygous mutation in the BEST1 gene was found in the three affected individuals (L41P and I201T). The unaffected parents and children only harbor one heterozygous mutation.
  
  
  CONCLUSIONS
  arBVMD can be caused by the compound heterozygous mutation L41P and I201T in the BEST1 gene.
authors.affiliation: Molecular Medicine Research Center and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
authors.forename: L
authors.initials: L
authors.lastname: Zhao
authors.forename: S
authors.initials: S
authors.lastname: Grob
authors.forename: R
authors.initials: R
authors.lastname: Corey
authors.forename: M
authors.initials: M
authors.lastname: Krupa
authors.forename: J
authors.initials: J
authors.lastname: Luo
authors.forename: H
authors.initials: H
authors.lastname: Du
authors.forename: C
authors.initials: C
authors.lastname: Lee
authors.forename: G
authors.initials: G
authors.lastname: Hughes
authors.forename: J
authors.initials: J
authors.lastname: Lee
authors.forename: J
authors.initials: J
authors.lastname: Quach
authors.forename: J
authors.initials: J
authors.lastname: Zhu
authors.forename: P X
authors.initials: PX
authors.lastname: Shaw
authors.forename: I
authors.initials: I
authors.lastname: Kozak
authors.forename: K
authors.initials: K
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000075002:Bestrophins; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014792:Visual Acuity; D057826:Vitelliform Macular Dystrophy / Q000235:genetics*
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D017931:DNA Primers; D005136:Eye Proteins