|
|
Basic and Clinical Neuroscience، جلد ۱۱، شماره ۴، صفحات ۵۴۹-۵۵۶
|
|
|
| عنوان فارسی |
|
|
| چکیده فارسی مقاله |
|
|
| کلیدواژه‌های فارسی مقاله |
|
|
| عنوان انگلیسی |
Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome |
|
| چکیده انگلیسی مقاله |
Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L) syndrome. Then Sanger sequencing was used for the detected variant validation. Results: We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in the patient and heterozygous genotype in her unaffected parents. Notably, bioinformatics analysis using mutation taster (prob>0.99) and DDIGin (prob=86.51) predicted this mutation as disease-causing. Also, the variant was not present in our database, including 700 exome files. Conclusion: These findings emphasize the pathogenicity of rs797045105 for MEGDEL syndrome. On the other hand, our data shed light on the significance of WES application as a genetic test to identify and characterize the comprehensive spectrum of genetic variation and classification for patients with neuro- metabolic disorders. |
|
| کلیدواژه‌های انگلیسی مقاله |
Whole-exome sequencing, rs797045105, SERAC1, MEGDEL |
|
| نویسندگان مقاله |
| Mina Zamani
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
| Tahereh Seifi
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
| Jawaher Zeighami
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
| Neda Mazaheri
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
| Emad Jahangirnezhad
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
| Minoo Gholamzadeh
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
| Alireza Sedaghat
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
| Gholamreza Shariati
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
| Hamid Galehdari
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
|
|
| نشانی اینترنتی |
http://bcn.iums.ac.ir/browse.php?a_code=A-10-1236-1&slc_lang=en&sid=1 |
| فایل مقاله |
فایلی برای مقاله ذخیره نشده است |
| کد مقاله (doi) |
|
| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Cellular and molecular Neuroscience |
| نوع مقاله منتشر شده |
News and Reports |
|
|
|
برگشت به:
صفحه اول پایگاه |
نسخه مرتبط |
نشریه مرتبط |
فهرست نشریات
|