Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family

Shaival S. Shah, Ali Al-Rajhi, James D Brandt, Mark J Mannis, Ben Roos, Val C. Sheffield, Nasreen A. Syed, Edwin M. Stone, John H. Fingert

Research output: Contribution to journalArticle

23 Scopus citations

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. Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)41-45
Number of pages5
JournalOphthalmic Genetics
Volume29
Issue number1
DOIs
StatePublished - Mar 2008

Keywords

  • CHED
  • CHED2
  • Congenital hereditary endothelial dystrophy
  • Mutation
  • SLC4A11

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family'. Together they form a unique fingerprint.

  • Cite this