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Iranian Biomedical Journal، جلد ۲۴، شماره ۴، صفحات ۲۵۷-۲۶۳
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چکیده فارسی مقاله
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عنوان انگلیسی Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia
چکیده انگلیسی مقاله Background: The clinical phenotyping of patients with achromatopsia harboring variants in PDE6C has poorly been described in the literature. PDE6C encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cGMP that proceeds with the hyperpolarization of photoreceptor cell membranes, as the final step of the phototransduction cascade. Methods: In the current study, two patients from a consanguineous family underwent full ophthalmologic examination and molecular investigations including WES. The impact of the variant on the functionality of the protein has been analyzed using in silico molecular modeling. Results: The patients identified with achromatopsia segregated a homozygous missense variant (c.C1775A:p.A592D) in PDE6C gene located on chromosome 10q23. Molecular modeling demonstrated that the variant would cause a protein conformational change and result in reduced phosphodiesterase activity. Conclusion: Our data extended the phenotypic spectrum of retinal disorders caused by PDE6C variants and provided new clinical and genetic information on achromatopsia.
کلیدواژه‌های انگلیسی مقاله Achromatopsia, PDE6C, Whole exome sequencing
نویسندگان مقاله | Ata Bushehri
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran


| Davood Zare-Abdollahi
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran


| Hesam Hashemian
Department of Ophthalmology, Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran


| Ladan Safavizadeh
Department of Opthomology, Ophthalmic Research Centre, Shahid Beheshti University (M.C.), Tehran, Iran


| Jalil Effati
Meybod Genetic Research Center, Yazd, Iran


| Hamid Reza Khorram Khorshid
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-809&slc_lang=en&sid=1
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-2380501.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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