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Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia
Methylmalonic acidemia (MMA)-affected patients may have developmental, hematological, neurological, metabolic, ophthalmological, and dermatological clinically abnormal findings. This study aimed to identify mutations in 13 Chinese MMA cases. We provided genetic counseling, treatment, and prenatal di...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385101/ https://www.ncbi.nlm.nih.gov/pubmed/32719376 http://dx.doi.org/10.1038/s41598-020-69565-z |
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author | Zhang, Chuan Wang, Xing Hao, Shengju Zhang, Qinghua Zheng, Lei Zhou, Bingbo Liu, Furong Feng, Xuan Chen, Xue Ma, Panpan Chen, Cuixia Cao, Zongfu Ma, Xu |
author_facet | Zhang, Chuan Wang, Xing Hao, Shengju Zhang, Qinghua Zheng, Lei Zhou, Bingbo Liu, Furong Feng, Xuan Chen, Xue Ma, Panpan Chen, Cuixia Cao, Zongfu Ma, Xu |
author_sort | Zhang, Chuan |
collection | PubMed |
description | Methylmalonic acidemia (MMA)-affected patients may have developmental, hematological, neurological, metabolic, ophthalmological, and dermatological clinically abnormal findings. This study aimed to identify mutations in 13 Chinese MMA cases. We provided genetic counseling, treatment, and prenatal diagnosis for the families with MMA. Liquid chromatography-tandem mass spectrometry (LC–MS/MS) was performed and the results were confirmed by gas chromatography and mass spectrometry (GC/MS). Variant screening in probands was performed by targeted next-generation sequencing. Identified variants were confirmed by Sanger sequencing. Of these 13 MMA cases, seven were isolated MMA, and among them, six were caused by variants in MMUT and one was caused by a variant in MCEE. The other six cases were MMA with homocystinuria, which was caused by variants in MMACHC. We found six novel variants in three MMA-causing genes as follows: c.2008G>A, c.301_302insTA, c.984delC, and c.319A>T of MMUT; c.445T>C of MMACHC; and c.296T>C of MCEE. We provided prenatal diagnosis for two families with MMA at their next pregnancy, and one family had a healthy newborn. In conclusion, our findings expand the spectrum of genotypes in MMA. Effective genetic counseling is required to allow awareness of the patients’ families that MMA disease is treatable and a good prognosis can be obtained. |
format | Online Article Text |
id | pubmed-7385101 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-73851012020-07-28 Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia Zhang, Chuan Wang, Xing Hao, Shengju Zhang, Qinghua Zheng, Lei Zhou, Bingbo Liu, Furong Feng, Xuan Chen, Xue Ma, Panpan Chen, Cuixia Cao, Zongfu Ma, Xu Sci Rep Article Methylmalonic acidemia (MMA)-affected patients may have developmental, hematological, neurological, metabolic, ophthalmological, and dermatological clinically abnormal findings. This study aimed to identify mutations in 13 Chinese MMA cases. We provided genetic counseling, treatment, and prenatal diagnosis for the families with MMA. Liquid chromatography-tandem mass spectrometry (LC–MS/MS) was performed and the results were confirmed by gas chromatography and mass spectrometry (GC/MS). Variant screening in probands was performed by targeted next-generation sequencing. Identified variants were confirmed by Sanger sequencing. Of these 13 MMA cases, seven were isolated MMA, and among them, six were caused by variants in MMUT and one was caused by a variant in MCEE. The other six cases were MMA with homocystinuria, which was caused by variants in MMACHC. We found six novel variants in three MMA-causing genes as follows: c.2008G>A, c.301_302insTA, c.984delC, and c.319A>T of MMUT; c.445T>C of MMACHC; and c.296T>C of MCEE. We provided prenatal diagnosis for two families with MMA at their next pregnancy, and one family had a healthy newborn. In conclusion, our findings expand the spectrum of genotypes in MMA. Effective genetic counseling is required to allow awareness of the patients’ families that MMA disease is treatable and a good prognosis can be obtained. Nature Publishing Group UK 2020-07-27 /pmc/articles/PMC7385101/ /pubmed/32719376 http://dx.doi.org/10.1038/s41598-020-69565-z Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Zhang, Chuan Wang, Xing Hao, Shengju Zhang, Qinghua Zheng, Lei Zhou, Bingbo Liu, Furong Feng, Xuan Chen, Xue Ma, Panpan Chen, Cuixia Cao, Zongfu Ma, Xu Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia |
title | Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia |
title_full | Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia |
title_fullStr | Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia |
title_full_unstemmed | Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia |
title_short | Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia |
title_sort | mutation analysis, treatment and prenatal diagnosis of chinese cases of methylmalonic acidemia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385101/ https://www.ncbi.nlm.nih.gov/pubmed/32719376 http://dx.doi.org/10.1038/s41598-020-69565-z |
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