title: Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
abstract: OBJECTIVE
  To map and identify the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2, OMIM 217700), a disorder characterised by diffuse bilateral corneal clouding that may lead to visual impairment and requiring corneal transplantation.
  
  
  METHODS
  Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12. Two-point linkage analysis was carried out using the FASTLINK version of the MLINK program. Mutation screening was carried out by amplification of exons and flanking regions by polymerase chain reaction, followed by direct automated sequencing.
  
  
  RESULTS
  Linkage and haplotype analysis placed the disease locus within a 2.2 cM (1.3 Mb) interval flanked by D20S198 and D20S889, including SLC4A11. The maximum LOD score of 11.1 was obtained with D20S117 at theta = 0. Sequencing of SLC4A11 showed homozygotic mutations in affected members from 12 of 16 families.
  
  
  CONCLUSIONS
  These results confirm that mutations in the SLC4A11 gene cause autosomal recessive CHED.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Jiao
authors.forename: Afia
authors.initials: A
authors.lastname: Sultana
authors.forename: Prashant
authors.initials: P
authors.lastname: Garg
authors.forename: Balasubramanya
authors.initials: B
authors.lastname: Ramamurthy
authors.forename: Geeta K
authors.initials: GK
authors.lastname: Vemuganti
authors.forename: Nibaran
authors.initials: N
authors.lastname: Gangopadhyay
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: Chitra
authors.initials: C
authors.lastname: Kannabiran
mesh_terms: D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; C425809:SLC4A11 protein, human