Author/Authors :
Saberi, Mohammad Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Golchehre, Zahra Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Karamzade, Arezou Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Entezam, Mona Department of Medical Genetics - School of Medicine - Shiraz University of Medical Sciences, Shiraz, Iran , Eshaghkhani, Yeganeh Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Alavinejad, Elaheh Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Khojasteh Jafari, Hassan Farabi Eye Hospital, Tehran, Iran , Keramatipour, Mohammad Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran
Abstract :
Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causingsevere visual impairment in infancy.It has been reported that 9-15% of LCA cases have mutations in CRB1gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report threenovel pathogenicvariantsinCRB1gene and then briefly review the types, prevalence,and correlation of reported mutations in CRB1 gene. Methods: Whole exome sequencing and targeted gene panel wereemployed. Thenvalidation in the patient and segregation analysis in affected and unaffected members wasperformed.Results:Our detectednovel pathogenic variants(p.Glu703*,c.2128+1G>A and p.Ser758SerfsX33) in CRB1genewerevalidated by Sanger sequencing. Segregation analysisconfirmedthe inheritance pattern of the pathogenic variants. Conclusion: Our findingsshow that emerging the next-generation sequencing-based techniquesisvery efficient in identifying causative variants in disorders with locus heterogeneity
Keywords :
Whole exome sequencing , Retinal dystrophies , Leber congenital amaurosis , CRB1
