| چکیده انگلیسی مقاله |
In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing was performed for the only exon of TACSTD2 gene, and its boundary regions in all patients. In the patients with GDLD, the corneal surface showed lesions with different shapes from mild to severe forms depending on the progress of the disease. The patients showed grayish corneal deposits as a typical mulberry form, corneal dystrophy along with corneal lipid deposition, and vascularization. Targeted Sanger sequencing in TACSTD2 gene revealed the causative mutations in this gene in all studied families. Our study expanded the mutational spectrum of TACSTD2 which along with the related symptoms could help with the diagnosis, and management of the disease. |
| نویسندگان مقاله |
الهام آل حبیب | elham alehabib
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
جواد جمشیدی | javad jamshidi
noncommunicable diseases research center, fasa university of medical sciences, fasa, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی فسا (Fasa university of medical sciences)
حمید قایدی | hamid ghaedi
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
بابک امامعلی زاده | babak emamalizadeh
department of medical genetics, faculty of medicine, tabriz university of medical sciences, tabriz, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تبریز (Tabriz university of medical sciences)
منور andarva | monavvar andarva
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
نارسیس دفتریان | narsis daftarian
ocular tissue engineering research center, shahid beheshti university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
مژگان رضایی کنوی | mozhgan rezaei kanavi
ocular tissue engineering research center, shahid beheshti university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
پیمان محمدی تربتی | peyman mohammadi torbati
department of pathology, labbafi-nezhad hospital, shahid beheshti university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
گلدیس رامین | goldis espandar
department of pathology, labbafi-nezhad hospital, shahid beheshti university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
سمیه علی نقی | somayeh alinaghi
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
امیرحسین جوهری | amir hossein johari
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
منصور saghally | mansoor saghally
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
فاطمه مهاجرانی | fatemeh mohajerani
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
حسین درویش | hossein darvish
department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)
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