AI Article Synopsis
- CHED is a genetic disorder affecting the corneal endothelial cells, leading to corneal clouding and vision issues, with two forms linked to different genetic mutations on chromosome 20.
- Researchers studied a large family with CHED2, performing genetic analysis on the SLC4A11 gene associated with the condition.
- A specific mutation (Leu843Pro) in the SLC4A11 gene was identified in affected family members, making this the first documented instance of this mutation in its homozygous form.
Article Abstract
Background: Congenital hereditary endothelial dystrophy (CHED) is a genetic disorder of corneal endothelial cells resulting in corneal clouding and visual impairment. Autosomal dominant (CHED1) and autosomal recessive (CHED2) forms have been reported and map to distinct loci on chromosome 20. CHED2 is caused by mutations in the SLC4A11 gene which encodes a membrane transporter protein.
Materials And Methods: Members of a large CHED2 family were recruited for clinical and genetic studies. Genomic DNA was sequenced for the exons and intron-exon boundaries of the SLC4A11 gene.
Results: Twelve family members were recruited, of which eight were diagnosed with CHED. A homozygous SLC4A11 mutation (Leu843Pro) was detected in the eight patients; a single copy of the mutation was present in three unaffected carriers.
Conclusions: A missense SLC4A11 mutation (Leu843Pro) is responsible for CHED2 in this family; this is the first report of this mutation in a homozygous state.
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| http://dx.doi.org/10.3109/13816810.2016.1151901 | DOI Listing |
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