[Identification of novel mutations of SLC4A11 gene in patients with congenital hereditary endothelial dystrophy].

Objective: To identify the potential pathogenic variants in patients with congenital hereditary endothelial dystrophy (CHED). Methods: A retrospective study. Six CHED patients were recruited from the Department of Ophthalmology at the Eye and ENT Hospital of Fudan University from August 2017 to September 2018. They were all males, and were 7 to 29 years old at the time of consultation, with an average age of 20.5 years. Whole-exome sequencing was performed on the six CHED patients. The Genome Analysis Tool Kit Best Practices pipeline and an in-house bioinformatics pipeline were applied for variants analyses, according to the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. Potential pathogenic variants were further validated by Sanger sequencing. Results: Six mutations in the SLC4A11 gene were identified in four out of six CHED patients, including four missense mutations (p.Arg869Cys, p.Pro773Leu, p.Arg869His, p.Arg755Trp), one frameshift mutation (p. Phe713fs), and one splicing site mutation (c.1330+1G>T). The frameshift mutation was pathogenic, while the pathogenicity of the splicing site mutation was unknown. Conclusions: We identified six CHED-associated mutations in this study. The frameshift mutation (p. Phe713fs) and the splicing site mutation (c.1330+1G>T) were novel. (Chin J Ophthalmol, 2021, 57: 133-138).

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