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Iranian Journal of Basic Medical Sciences، جلد ۲۱، شماره ۳، صفحات ۳۳۳-۳۴۱
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عنوان انگلیسی The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families
چکیده انگلیسی مقاله Objective(s): Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-syndromic types. This study intended to assess the significance of mutations in these genes to the autosomal recessive/dominant non-syndromic genetic load among Iranian families. Materials and Methods: Two families were involved in this research and two patients were examined by targeted next-generation sequencing. Here we report two novel mutations in the MYO7A and EYA1 genes in two patients detected by targeted NGS. They were confirmed by Sanger sequencing and quantitative real-time PCR techniques. Results: In this investigation, we identified a novel mutation in MYO7A, c.3751G>C, p.A1251P, along with another previously identified mutation (c.1708C>T) in one of the cases. This mutation is located in the MYTH4 protein domain which is a pivotal domain for the myosin function. Another finding in this research was a novel de-novo deletion which deletes the entire EYA1 coding region (EX1-18 DEL). Mutations in EYA1 gene have been found in branchiootorenal (BOR) syndrome. Interestingly the patient with EYA1 deletion did not show any other additional clinical implications apart from HL. This finding might argue for the sole involvement of EYA1 function in the mechanism of hearing. Conclusion: This investigation exhibited that the novel mutations in MYO7A, c.3751G>C, p.A1251P, and EYA1, EX1-18 DEL, were associated with NSHL. Our research increased the mutation spectrum of hearing loss in the Iranian population.
کلیدواژه‌های انگلیسی مقاله EYA1, Mutation, MYO7A, MYTH4, NSHL
نویسندگان مقاله احسان رزم آرا | ehsan razmara
department of medical genetics, faculty of medical sciences, tarbiat modares university, tehran, iran

سازمان اصلی تایید شده: دانشگاه تربیت مدرس (Tarbiat modares university)

فاطمه بیطرفان | fatemeh bitarafan
department of medical genetics, dena laboratory, tehran, iran


الیکا اسماعیل زاده قره داغی | elika esmaeilzadeh gharehdaghi
department of medical genetics, faculty of medical sciences, tarbiat modares university, tehran, iran

سازمان اصلی تایید شده: دانشگاه تربیت مدرس (Tarbiat modares university)

نوید المدنی | navid almadani
department of genetics, reproductive biomedicine research center, royan institute for reproductive biomedicine, acecr, tehran, iran

سازمان اصلی تایید شده: پژوهشگاه رویان (Royan institute)

مسعود گرشاسبی | masoud garshasbi
department of medical genetics, faculty of medical sciences, tarbiat modares university, tehran, iran|department of medical genetics, dena laboratory, tehran, iran

سازمان اصلی تایید شده: دانشگاه تربیت مدرس (Tarbiat modares university)

نشانی اینترنتی http://ijbms.mums.ac.ir/article_10205.html
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/87/article-87-565995.pdf
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Original Article
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