Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review
The subject of the study is an 11-month old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency, including developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid and methylmalonic acid. Whole genome sequencing (WGS...
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| Format: | Article |
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Frontiers Media S.A.
2023-05-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2023.1160879/full |
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| author | Fang Xu Fang Xu Yangyang Wu Yangyang Wu Jiyi Huang Yunguo Zhou Yunguo Zhou Fei Xu Fei Xu Junkai Duan Junkai Duan Hong Li |
| author_facet | Fang Xu Fang Xu Yangyang Wu Yangyang Wu Jiyi Huang Yunguo Zhou Yunguo Zhou Fei Xu Fei Xu Junkai Duan Junkai Duan Hong Li |
| author_sort | Fang Xu |
| collection | DOAJ |
| description | The subject of the study is an 11-month old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency, including developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid and methylmalonic acid. Whole genome sequencing (WGS) revealed a novel heterozygous nonsense mutation (c.672delG, p.Trp224Ter) in the MLYCD gene of the proband and her father and a novel heterozygous deletion in 5'-UTR-exon1-intron1 of the MLYCD gene of the proband and her mother. The patient's cardiac function and limb weakness improved considerably after 3 months of a low-fat diet supplemented with L-carnitine. Furthermore, mapping of gene mutations and clinical manifestations was done by case collection. |
| first_indexed | 2024-04-09T14:42:42Z |
| format | Article |
| id | doaj.art-b45f71598ea5423c86c617841baa6c9d |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-09T14:42:42Z |
| publishDate | 2023-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-b45f71598ea5423c86c617841baa6c9d2023-05-03T05:20:59ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2023-05-011010.3389/fmed.2023.11608791160879Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature reviewFang Xu0Fang Xu1Yangyang Wu2Yangyang Wu3Jiyi Huang4Yunguo Zhou5Yunguo Zhou6Fei Xu7Fei Xu8Junkai Duan9Junkai Duan10Hong Li11Cardiology Treatment Center, Jiangxi Provincial Children's Hospital, Nanchang, ChinaJXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, ChinaCardiology Treatment Center, Jiangxi Provincial Children's Hospital, Nanchang, ChinaPediatric Medical Department, Nanchang University, Nanchang, ChinaJXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, ChinaCardiology Treatment Center, Jiangxi Provincial Children's Hospital, Nanchang, ChinaJXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, ChinaCardiology Treatment Center, Jiangxi Provincial Children's Hospital, Nanchang, ChinaJXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, ChinaCardiology Treatment Center, Jiangxi Provincial Children's Hospital, Nanchang, ChinaJXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, ChinaJXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, ChinaThe subject of the study is an 11-month old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency, including developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid and methylmalonic acid. Whole genome sequencing (WGS) revealed a novel heterozygous nonsense mutation (c.672delG, p.Trp224Ter) in the MLYCD gene of the proband and her father and a novel heterozygous deletion in 5'-UTR-exon1-intron1 of the MLYCD gene of the proband and her mother. The patient's cardiac function and limb weakness improved considerably after 3 months of a low-fat diet supplemented with L-carnitine. Furthermore, mapping of gene mutations and clinical manifestations was done by case collection.https://www.frontiersin.org/articles/10.3389/fmed.2023.1160879/fullMLYCDmalonyl coenzyme A decarboxylase deficiencycardiomyopathynovel mutationmetabolic disease |
| spellingShingle | Fang Xu Fang Xu Yangyang Wu Yangyang Wu Jiyi Huang Yunguo Zhou Yunguo Zhou Fei Xu Fei Xu Junkai Duan Junkai Duan Hong Li Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review Frontiers in Medicine MLYCD malonyl coenzyme A decarboxylase deficiency cardiomyopathy novel mutation metabolic disease |
| title | Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review |
| title_full | Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review |
| title_fullStr | Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review |
| title_full_unstemmed | Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review |
| title_short | Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review |
| title_sort | case report a novel 5 utr exon1 intron1 deletion in mlycd in an ivf child with malonyl coenzyme a decarboxylase deficiency and literature review |
| topic | MLYCD malonyl coenzyme A decarboxylase deficiency cardiomyopathy novel mutation metabolic disease |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2023.1160879/full |
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