Novel pathogenic variant in Iranian familial with inherited retinal dystrophies: genotype-phenotype correlation.

3 Biotech

Luzhou, Sichuan 646000 People's Republic of China Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University.

Published: June 2023

Inherited retinal dystrophies (IRDs) include a large chronic heterogeneity genetic disease. While many disease-causing pathogenic variants were involved in the progression of IRD, the Ceramide Kinase Like () gene variant in Iranian patients is not well characterized. In this study, a consanguineous Iranian family with three generations was recruited whom presented with the clinical diagnosis of autosomal recessive IRD. By targeted next-generation sequencing (TGS) and Sanger sequencing, the proband was found to have a novel, pathological homozygous deletion variant c.560_568del (p.187_190del) of the gene (NM_001030311.2) that co-segregated with the disease in all affected family members. The is highly expressed in the later four developmental retinal stages, playing a vital role in retina degeneration. Therefore, the identification of a novel, homozygous deletion variant c.560_568del (p.187_190del) in an IRD familial cohort descent provides insights into the molecular pathogenesis of IRD and facilitates genetic counseling and disease prediction.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163994PMC
http://dx.doi.org/10.1007/s13205-023-03535-wDOI Listing

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