کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5627217 1579668 2017 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex
چکیده انگلیسی


- We examined 11 patients with tuberous sclerosis complex (TSC).
- We utilized PCR to detect potential mutations in the TSC1 and TSC2 gene.
- 11 different TSC2 and one TSC1 mutations were identified in the present study.
- The findings expanded the spectrum of TSC1 and TSC2 gene mutations.

ObjectiveThe study was designed to identify pathogenic TSC1 or TSC2 gene mutations and provide solid evidence for the diagnosis of tuberous sclerosis complex (TSC).Methods11 unrelated Chinese patients with TSC were investigated in the present study. Characteristic skin lesions such as hypomelanotic macules and the central nervous system features such as the epilepsy, cortical tubers and subependymal nodules were the most common symptoms that were observed in the patients. All exons and exon‐intron boundaries of the TSC1 and TSC2 gene of the patients were amplified by PCR.ResultsA total of 11 different TSC2 and one TSC1 mutations were identified in the present study, of which five TSC2 and 1 TSC1 gene mutations were novel. Among the 11 patients, 10 harbored TSC2 mutations, whereas only one patient had a TSC1 gene mutation. The identification of TSC1/TSC2 gene mutations confirmed the diagnosis of the 11 patients with TSC.ConclusionsOur study has expanded the spectrum of TSC1 and TSC2 gene mutations causing TSC. The identification of the TSC1/TSC2 gene mutations confirmed the diagnosis of the 11 patients with TSC.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Neurology and Neurosurgery - Volume 154, March 2017, Pages 104-108
نویسندگان
, , , , , , , ,