Complete SLC4A11 Detection in Saudi Congenital Hereditary Endothelial Dystrophy: A Transmembrane Glycine Hotspot and a Recurrent Splice Donor Allele in Consanguineous Patients.

Abstract excerpt

Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium caused by biallelic variants in the SLC4A11 gene. Its genetic spectrum is well described in the Indian subcontinent, but poorly characterized in the Saudi population, where high rates of consanguinity may concentrate specific alleles. We performed whole-exome sequencing in 47 clinically diagnosed...

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