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Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family

British Journal of Ophthalmology Aug 25, 2019

Moazzeni H, Ali Javadi M, Asgari D, et al. - In this investigation, researchers screened SLC4A11 in Iranian patients to determine the mutation spectrum of this gene among Iranians and obtain further understanding about the potential contribution of other genes to congenital hereditary endothelial dystrophy (CHED) aetiology. SLC4A11 has been screened by sequencing in 21 Iranian patients with CHED. According to findings, SLC4A11 mutations in Iranians are the common cause of CHED. The 10 novel mutations observed contribute significantly to the approximately 85 mutations reported since more than 10 years ago discovering the gene's role in CHED pathogenesis. MPDZ mutations in a minority of patients can cause CHED and even Fuchs endothelial corneal dystrophy. In accordance with a role in corneal endothelial pathobiology, the proposed tasks of MPDZ with regard to tight junctions and the maintenance of the corneal endothelial barrier.
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