title: Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
abstract: OBJECTIVE
  To identify Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) gene mutations associated with autosomal recessive congenital hereditary endothelial dystrophy (CHED2).
  
  
  METHODS
  DNA extraction from blood, polymerase chain reaction amplification, and direct sequencing of all the exons of the SLC4A11 gene were performed for 26 affected members of 20 unrelated families with CHED2.
  
  
  RESULTS
  Of 10 mutations observed, 6 were novel, 1 of which involves a complete deletion of exon 6, identified for the first time, to our knowledge, in SLC4A11. The mutations cosegregated with the disease phenotype and were absent in 200 ethnically matched control chromosomes analyzed.
  
  
  CONCLUSIONS
  This study increases the number of SLC4A11 gene mutations and confirms the role of this gene in causing CHED2. Clinical examination did not reveal any considerable variability in disease expressivity in patients carrying SLC4A11 mutations. Extensive linkage analysis may reveal the modifier genes involved in causing CHED2 in the SLC4A11 mutations unidentified in 9 families.
  
  
  CONCLUSIONS
  In India, there is a high frequency of CHED2, possibly related to consanguineous marriages. Counseling could be provided to explain the drawbacks of consanguineous marriages to assist in reducing this devastating disorder.
authors.affiliation: Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India.
authors.forename: Boomiraj
authors.initials: B
authors.lastname: Hemadevi
authors.forename: Reiner A
authors.initials: RA
authors.lastname: Veitia
authors.forename: Muthiah
authors.initials: M
authors.lastname: Srinivasan
authors.forename: Jambulingam
authors.initials: J
authors.lastname: Arunkumar
authors.forename: Namperumalsamy Venkatesh
authors.initials: NV
authors.lastname: Prajna
authors.forename: Corinne
authors.initials: C
authors.lastname: Lesaffre
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004728:Endothelium, Corneal / Q000473:pathology*; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; C425809:SLC4A11 protein, human