title: Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
abstract: OBJECTIVE
  Congenital hereditary endothelial dystrophy (CHED) is a rare genetic disorder caused by mutations in corneal endothelial cells. CHED can be divided into 2 types by the modes of inheritance; CHED type 1 (CHED1) with autosomal dominant inheritance and CHED type 2 (CHED2) with autosomal recessive inheritance. Mutations in the sodium bicarbonate transporter-like solute carrier family 4 member 11 (SLC4A11) gene result CHED2.
  
  
  METHODS
  A 37 years old female was clinically diagnosed as CHED2. Peripheral blood from the patient and her family members was obtained under informed consents. Genomic DNA was extracted in their WBCs, and whole exons and exon-intron boundaries of the SLC4A11 gene were amplified using polymerase chain reaction. The amplified materials were analyzed by direct sequencing method.
  
  
  RESULTS
  The sequencing results of the SLC4A11 gene showed a novel homozygous mutation in exon 9 (c.1158C > A, p.C386*) in the proband with CHED2 phenotype. Her father and sister showing normal cornea were heterozygous carriers of the mutation. Her mother showing late onset Fuchs endothelial corneal dystrophy (FECD) also had the same mutation heterozygously.
  
  
  CONCLUSIONS
  We report a novel nonsense mutation of the SLC4A11 gene in the patient with CHED2. In addition, one of heterozygous carriers in this family showed features of late onset FECD. Close clinical ocular examination for the heterozygous carriers should be performed to detect late onset FECD.
authors: a Department of Ophthalmology , College of Medicine, Chungbuk National University , Cheongju , Korea .
authors: Jae-hyung
authors: JH
authors: Kim
authors: Jung Min
authors: JM
authors: Ko
authors: Hungwon
authors: H
authors: Tchah
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D018389:Codon, Nonsense; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014792:Visual Acuity / Q000502:physiology
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; D018389:Codon, Nonsense; C425809:SLC4A11 protein, human
keywords: Congenital hereditary endothelial dystrophy; Fuchs endothelial dystrophy; SLC4A11