Academic Journal
A novel deep intronic variant strongly associates with Alkaptonuria
| العنوان: | A novel deep intronic variant strongly associates with Alkaptonuria |
|---|---|
| المؤلفون: | Lai, C-Y, Tsai, I-J, Chiu, P-C, Ascher, DB, Chien, Y-H, Huang, Y-H, Lin, Y-L, Hwu, W-L, Lee, N-C |
| بيانات النشر: | NATURE PORTFOLIO |
| سنة النشر: | 2021 |
| المجموعة: | The University of Melbourne: Digital Repository |
| الوصف: | Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which causes ochronosis, arthropathy, cardiac valvular calcification, and urolithiasis. The epidemiology of alkaptonuria in East Asia is not clear. In this study, patients diagnosed with alkaptonuria from January 2010 to June 2020 were reviewed. Their clinical and molecular features were further compared with those of patients from other countries. Three patients were found to have alkaptonuria. Mutation analyses of the homogentisate 1,2-dioxygenase gene (HGD) showed four novel variants c.16-2063 A > C, p.(Thr196Ile), p.(Gly344AspfsTer25), and p.(Gly362Arg) in six mutated alleles (83.3%). RNA sequencing revealed that c.16-2063 A > C activates a cryptic exon, causing protein truncation p.(Tyr5_Ile6insValTer17). A literature search identified another 6 patients with alkaptonuria in East Asia; including our cases, 13 of the 18 mutated alleles have not been reported elsewhere in the world. Alkaptonuria is rare in Taiwan and East Asia, with HGD variants being mostly novel and private. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2056-7944 |
| Relation: | NHMRC/1174405; pii: 10.1038/s41525-021-00252-2; Lai, C. -Y., Tsai, I. -J., Chiu, P. -C., Ascher, D. B., Chien, Y. -H., Huang, Y. -H., Lin, Y. -L., Hwu, W. -L. & Lee, N. -C. (2021). A novel deep intronic variant strongly associates with Alkaptonuria. NPJ GENOMIC MEDICINE, 6 (1), https://doi.org/10.1038/s41525-021-00252-2.; http://hdl.handle.net/11343/290318 |
| الاتاحة: | http://hdl.handle.net/11343/290318 |
| Rights: | CC BY ; https://creativecommons.org/licenses/by/4.0 |
| رقم الانضمام: | edsbas.76F66212 |
| قاعدة البيانات: | BASE |
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