title: Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.
abstract: OBJECTIVE
  To determine the role of the SLC4A11 gene in two pedigrees affected with autosomal recessive congenital hereditary endothelial dystrophy (CHED).
  
  
  METHODS
  Nine members of a pedigree from the Kingdom of Saudi Arabia (pedigree 971G) and 2 twins in a pedigree from Bosnia (pedigree GGO413) were diagnosed with autosomal recessive CHED and contributed DNA samples for genetic studies. The proband of each pedigree was tested for disease-causing mutations in the SLC4A11 gene with bi-directional DNA sequencing. Screening assays using restriction enzyme digests were developed to test a cohort of 99 normal control subjects for the presence of SLC4A11 mutations.
  
  
  RESULTS
  A novel, homozygous mutation in the SLC4A11 gene (Thr271Met) was detected in the proband of pedigree 971G. Homozygous Thr271Met mutations were detected in all affected members of pedigree 971G. The Thr271Met mutation was not detected in a cohort of 99 normal control subjects. This mutation alters a highly conserved amino acid in the encoded SLC4A11 protein. No SLC4A11 mutations were detected in pedigree GGO413.
  
  
  CONCLUSIONS
  A novel SLC4A11 mutation (Thr271Met) is associated with autosomal recessive CHED in a pedigree from the Kingdom of Saudi Arabia and provides additional support that mutations in this gene cause disease.
authors: Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
authors: Shaival S
authors: SS
authors: Shah
authors: Ali
authors: A
authors: Al-Rajhi
authors: James D
authors: JD
authors: Brandt
authors: Mark J
authors: MJ
authors: Mannis
authors: Ben
authors: B
authors: Roos
authors: Val C
authors: VC
authors: Sheffield
authors: Nasreen A
authors: NA
authors: Syed
authors: Edwin M
authors: EM
authors: Stone
authors: John H
authors: JH
authors: Fingert
mesh_terms: D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D018912:Arabs / Q000235:genetics*; D015331:Cohort Studies; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004728:Endothelium, Corneal; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008297:Male; D008715:Methionine; D009154:Mutation; D010375:Pedigree; D012529:Saudi Arabia; D013912:Threonine
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; C425809:SLC4A11 protein, human; D013912:Threonine; D008715:Methionine