A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in DMD. A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental research. Here, we aimed to build the largest Chine...
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2020-09-01
|
| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/article/10.3389/fneur.2020.572006/full |
| _version_ | 1811327514279149568 |
|---|---|
| author | Yuan-Ren Tong Chang Geng Yu-Zhou Guan Yan-Huan Zhao Hai-Tao Ren Feng-Xia Yao Chao Ling Dan-Chen Wang Lin Chen Li-Ying Cui Shu-Yang Zhang Yi Dai |
| author_facet | Yuan-Ren Tong Chang Geng Yu-Zhou Guan Yan-Huan Zhao Hai-Tao Ren Feng-Xia Yao Chao Ling Dan-Chen Wang Lin Chen Li-Ying Cui Shu-Yang Zhang Yi Dai |
| author_sort | Yuan-Ren Tong |
| collection | DOAJ |
| description | Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in DMD. A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental research. Here, we aimed to build the largest Chinese national dystrophinopathy database using the National Rare Diseases Registry System of China. Peking Union Medical College Hospital (PUMCH) was the National Rare Diseases Center of China. This research involved 2013 patients with dystrophinopathies, whose diagnoses were confirmed; they were registered and followed up at PUMCH from March 2011 to December 2018. Family history, clinical signs, and treatment data were reported for patients with DMD and BMD at different rates. All six serum biochemical indexes could accurately distinguish between DMD and BMD patients. Copy number variations were the most frequent mutation type (79.2% in DMD and 84.3% in BMD), of which large deletions accounted for 88.4 and 88.6%, large duplications accounted for 11.6 and 11.4% in DMD and BMD, respectively. An exon deletion hotspot, located in exons 45–54, was observed in DMD, and intron 44 was the most frequent deletion starting point (26.5%). Duplication and single nucleotide variations appeared to be uniformly distributed among all exons. Eleven patients were identified to have ultrarare mutation types. Eleven other patients suffered from two separate mutations simultaneously, some of which may have taken place via dependent mechanisms. Thus, we have established the largest hospital-based Chinese dystrophinopathy database via the National Rare Diseases Registry System. This study provides valuable information for further diagnostic and therapeutic studies of dystrophinopathy. |
| first_indexed | 2024-04-13T15:08:09Z |
| format | Article |
| id | doaj.art-b39a3e834c0b4f7e9ef083687870c441 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-13T15:08:09Z |
| publishDate | 2020-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-b39a3e834c0b4f7e9ef083687870c4412022-12-22T02:42:06ZengFrontiers Media S.A.Frontiers in Neurology1664-22952020-09-011110.3389/fneur.2020.572006572006A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease CenterYuan-Ren Tong0Chang Geng1Yu-Zhou Guan2Yan-Huan Zhao3Hai-Tao Ren4Feng-Xia Yao5Chao Ling6Dan-Chen Wang7Lin Chen8Li-Ying Cui9Shu-Yang Zhang10Yi Dai11Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaPeking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaLaboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaLaboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDepartment of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, ChinaDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in DMD. A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental research. Here, we aimed to build the largest Chinese national dystrophinopathy database using the National Rare Diseases Registry System of China. Peking Union Medical College Hospital (PUMCH) was the National Rare Diseases Center of China. This research involved 2013 patients with dystrophinopathies, whose diagnoses were confirmed; they were registered and followed up at PUMCH from March 2011 to December 2018. Family history, clinical signs, and treatment data were reported for patients with DMD and BMD at different rates. All six serum biochemical indexes could accurately distinguish between DMD and BMD patients. Copy number variations were the most frequent mutation type (79.2% in DMD and 84.3% in BMD), of which large deletions accounted for 88.4 and 88.6%, large duplications accounted for 11.6 and 11.4% in DMD and BMD, respectively. An exon deletion hotspot, located in exons 45–54, was observed in DMD, and intron 44 was the most frequent deletion starting point (26.5%). Duplication and single nucleotide variations appeared to be uniformly distributed among all exons. Eleven patients were identified to have ultrarare mutation types. Eleven other patients suffered from two separate mutations simultaneously, some of which may have taken place via dependent mechanisms. Thus, we have established the largest hospital-based Chinese dystrophinopathy database via the National Rare Diseases Registry System. This study provides valuable information for further diagnostic and therapeutic studies of dystrophinopathy.https://www.frontiersin.org/article/10.3389/fneur.2020.572006/fullNRDRSDuchenne muscular dystrophyBecker muscular dystrophyhospital-registrymutation spectrumrare mutations |
| spellingShingle | Yuan-Ren Tong Chang Geng Yu-Zhou Guan Yan-Huan Zhao Hai-Tao Ren Feng-Xia Yao Chao Ling Dan-Chen Wang Lin Chen Li-Ying Cui Shu-Yang Zhang Yi Dai A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center Frontiers in Neurology NRDRS Duchenne muscular dystrophy Becker muscular dystrophy hospital-registry mutation spectrum rare mutations |
| title | A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center |
| title_full | A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center |
| title_fullStr | A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center |
| title_full_unstemmed | A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center |
| title_short | A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center |
| title_sort | comprehensive analysis of 2013 dystrophinopathies in china a report from national rare disease center |
| topic | NRDRS Duchenne muscular dystrophy Becker muscular dystrophy hospital-registry mutation spectrum rare mutations |
| url | https://www.frontiersin.org/article/10.3389/fneur.2020.572006/full |
| work_keys_str_mv | AT yuanrentong acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT changgeng acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT yuzhouguan acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT yanhuanzhao acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT haitaoren acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT fengxiayao acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT chaoling acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT danchenwang acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT linchen acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT liyingcui acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT shuyangzhang acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT yidai acomprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT yuanrentong comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT changgeng comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT yuzhouguan comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT yanhuanzhao comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT haitaoren comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT fengxiayao comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT chaoling comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT danchenwang comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT linchen comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT liyingcui comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT shuyangzhang comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter AT yidai comprehensiveanalysisof2013dystrophinopathiesinchinaareportfromnationalrarediseasecenter |