دورية أكاديمية
Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2
| العنوان: | Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2 |
|---|---|
| المؤلفون: | Sui-Bing Miao, Hui Guo, De-Xian Kong, Yuan-Yuan Zhao, Shu-Hong Pan, Yan Jiang, Xing Gao, Xiao-Hua Wu |
| المصدر: | Frontiers in Genetics, Vol 13 (2022) |
| بيانات النشر: | Frontiers Media S.A., 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | neuronal ceroid lipofuscinosis type 2 (CLN2), tripeptidyl peptidase I (TPP1), variant, molecular analysis, splicing assay, Genetics, QH426-470 |
| الوصف: | Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive neurodegenerative disease caused by variants in the TPP1 gene that lead to the deficiency of the lysosomal enzyme tripeptidyl peptidase I (TPP1) activity. Herein, we report a rare case of CLN2 caused by two novel variants of TPP1. The patient presented with seizures at onset, followed by progressive cognitive impairment, motor decline, and vision loss. Novel compound heterozygous variants, c.544_545del and c.230-3C>G, in TPP1 were identified by whole-exome sequencing. The variant assessment showed that the c.544_545del is a frameshift variant mediating mRNA decay and that c.230-3C>G is a splice variant generating aberrantly spliced TPP1 mRNA, as confirmed by a Splicing Reporter Minigene assay. In conclusion, clinical history, variant assessment, and molecular analyses demonstrate that the novel compound heterozygous variants are responsible for CLN2 disease in this patient. This study expands the mutation spectrum of TPP1. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1664-8021 |
| العلاقة: | https://www.frontiersin.org/articles/10.3389/fgene.2022.937485/fullTest; https://doaj.org/toc/1664-8021Test |
| DOI: | 10.3389/fgene.2022.937485 |
| الوصول الحر: | https://doaj.org/article/3c948be2c8754a43b36e84160f97ca6eTest |
| رقم الانضمام: | edsdoj.3c948be2c8754a43b36e84160f97ca6e |
| قاعدة البيانات: | Directory of Open Access Journals |
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