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Iranian Biomedical Journal، جلد ۲۱، شماره ۵، صفحات ۲۹۴-۳۰۲
عنوان فارسی
چکیده فارسی مقاله
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عنوان انگلیسی Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Cumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
چکیده انگلیسی مقاله Background: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify the underlying mutations in three Iranian families. Methods: Having employed homozygosity mapping and Sanger sequencing, we identified the underlying mutations in the crumbs homologue 1 gene. The CRB1 protein is a part of a macromolecular complex with a vital role in retinal cell polarity, morphogenesis, and maintenance. Results: We identified a novel homozygous variant (c.1053_1061del; p.Gly352_Cys354del) in one family, a combination of a novel (c.2086T>C; p.Cys696Arg) and a known variant (c.2234C>T, p.Thr745Met) in another family and a homozygous novel variant (c.3090T>A; p.Asn1030Lys) in a third family. Conclusion: This study shows that mutations in CRB1 are relatively common in Iranian non-syndromic IRD patients.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله محمد غفرانی | mohammad ghofrani
department of medical genetics, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

مهین یحیایی | mahin yahyaei
department of medical genetics, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

هانیه g brunner | han g brunner
department of human genetics, radboud university medical center, nijmegen, the netherlands.


frans p m cremers | frans p m cremers
department of human genetics, radboud university medical center, nijmegen, the netherlands.


مرتضی مواسات | morteza movasat
eye research center, tehran university of medical sciences, farabi eye hospital, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

محمد عمران خان | muhammad imran khan
department of human genetics, radboud university medical center, nijmegen, the netherlands


محمد کرامتی پور | mohammad keramatipour
department of medical genetics, tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-2438-3&slc_lang=en&sid=en
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-419779.pdf
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زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Related Fields
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