چاپ صفحه |  صفحه نخست سامانه |  نویسندگان |  اطلاعات تفضیلی |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده | نفر چندم مقاله |
|---|---|
| الهام نوروز دولت آبادی | اول |
| عفت علیزاده | پنجم |
| عنوان | متن |
|---|---|
| کلمات کلیدی | WES, TGM1 gene, Lamellar ichthyosis, Sanger Sequencing |
| خلاصه مقاله | Introduction: Lamellar ichthyosis (LI) is a rare genetic disorder characterized by abnormal scaling and thickening of the skin. LI is caused by mutations in the transglutaminase 1 gene (TGM1), which encodes an enzyme involved in the cross-linking of structural proteins in the epidermis. While several mutations in TGM1 have been reported in LI patients, the identification of novel mutations contributes to our understanding of the genetic basis of LI and may have implications for personalized treatment approaches. Methods: In this study, we collected blood samples from an LI patient. Genomic DNA was extracted using standard protocols followed by whole exome sequencing (WES) technique. The resulting sequence data was analyzed using bioinformatics tools to identify potential disease-causing variants, which was confirmed by Sanger sequencing. Results: Genetic testing using WES identified a homozygous mutation, c.1645+1 G>A, in the TGM1 gene (NM_000359.3), which was confirmed by Sanger sequencing. Both parents were found to be heterozygous carriers of the mutation consistent with autosomal recessive inheritance. This homozygous variant has been reported as a pathogenic in Franklin, VarSome and Clinvar, but has not previously been described in the literature and represents a new genetic variant associated with LI. Discussion and conclusion: The c.1645+1 G>A mutation affects the splice donor site of intron 12 in the TGM1 gene, potentially leading to defective mRNA splicing and the production of nonfunctional or truncated transglutaminase-1 protein. The identification of this mutation expands the spectrum of TGM1 mutations involved in LI and highlights the importance of comprehensive genetic testing for the diagnosis and management of LI patients. |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| recepi.pdf | 1403/04/30 | 281525 | دانلود |
| G-1213.pdf | 1403/05/08 | 275230 | دانلود |
| 1 (1).docx | 1403/06/11 | 16085 | دانلود |
| 22.pdf | 1403/06/21 | 463991 | دانلود |
