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Iranian Biomedical Journal، جلد ۲۳، شماره ۵، صفحات ۳۶۲-۳۶۸
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چکیده فارسی مقاله
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عنوان انگلیسی CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
چکیده انگلیسی مقاله Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report three novel pathogenic variants in CRB1 gene and then briefly review the types, prevalence, and correlation of reported mutations in CRB1 gene. Methods: Whole exome sequencing and targeted gene panel were employed. Then validation in the patient and segregation analysis in affected and unaffected members was performed. Results: Our detected novel pathogenic variants (p.Glu703*, c.2128+1G>A and p.Ser758SerfsX33) in CRB1 gene were validated by Sanger sequencing. Segregation analysis confirmed the inheritance pattern of the pathogenic variants. Conclusion: Our findings show that emerging the next-generation sequencing-based techniques is very efficient in identifying causative variants in disorders with locus heterogeneity. 
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نویسندگان مقاله | Mohammad Saberi
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Zahra Golchehre
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Arezou Karamzade
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Mona Entezam
Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran


| Yeganeh Eshaghkhani
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Elaheh Alavinejad
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Hassan Khojasteh Jafari
Farabi Eye Hospital, Tehran, Iran


| Mohammad Keramatipour
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-762&slc_lang=en&sid=1
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-1687396.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Molecular Genetics & Genomics
نوع مقاله منتشر شده مقاله موردی
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