Language
English
Publication Date
6-1-2023
Journal
3 Biotech
DOI
10.1007/s13205-023-03535-w
PMID
37162806
PMCID
PMC10163994
PubMedCentral® Posted Date
5-6-2023
PubMedCentral® Full Text Version
Post-print
Abstract
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 (CERKL) 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 CERKL gene (NM_001030311.2) that co-segregated with the disease in all affected family members. The Cerkl 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 CERKL 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.
Keywords
Retinal dystrophy, CERKL gene, Deletion variant, Targeted next-generation sequencing (NGS), Iranian
Published Open-Access
yes
Recommended Citation
Fu, Shangyi; Fu, Jiewen; Mobasher-Jannat, Abdolkarim; et al., "Novel Pathogenic Cerkl Variant in Iranian Familial With Inherited Retinal Dystrophies: Genotype–Phenotype Correlation" (2023). Faculty and Staff Publications. 4357.
https://digitalcommons.library.tmc.edu/baylor_docs/4357