Academic Journal
A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review
| العنوان: | A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review |
|---|---|
| المؤلفون: | Cong Zhao, Hua Peng, Nanchuan Jiang, Yalan Liu, Yan Chen, Jie Liu, Qing Guo, Zubo Wu, Lin Wang |
| المصدر: | Frontiers in Pediatrics, Vol 11 (2023) |
| بيانات النشر: | Frontiers Media S.A., 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Pediatrics |
| مصطلحات موضوعية: | MCD, MLYCD, malonyl coenzyme A decarboxylase deficiency, developmental retardation, improvement of cardiomyopathy, Pediatrics, RJ1-570 |
| الوصف: | IntroductionMalonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan.MethodsWe collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We use the search term “Malonyl-CoA Decarboxylase Deficiency” on Pubmed to collect cases reported.ResultsWe report a 3-year-old girl who is presented with developmental retardation, myocardial damage and elevated C3DC. High-throughput sequencing identified heterozygous mutation (c.798G>A, p.Q266?) in the patient inherited from her father. The other heterozygous mutation (c.641+5G>C) was found in the patient inherited from her mother. RNA-seq showed that there were 254 differential genes in this child, among which 153 genes were up-regulated and 101 genes were down-regulated. Exon jumping events occurred in exons encoding PRMT2 on the positive chain of chromosome 21, which led to abnormal splicing of PRMT2. (P |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2296-2360 |
| Relation: | https://www.frontiersin.org/articles/10.3389/fped.2023.1133134/full; https://doaj.org/toc/2296-2360 |
| DOI: | 10.3389/fped.2023.1133134 |
| URL الوصول: | https://doaj.org/article/bd1a893fccb74cb0940b18f2b2f67620 |
| رقم الانضمام: | edsdoj.bd1a893fccb74cb0940b18f2b2f67620 |
| قاعدة البيانات: | Directory of Open Access Journals |
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