新发突变基因的新生儿X-连锁肌小管肌病1例并文献回顾
X-连锁肌小管肌病(X-linked myotubular myopathy,XLMTM)是一种罕见的先天性肌病.四川大学华西第二医院于2021年2月收治1例临床表现为肌张力低下、伴有特殊面容、需持续呼吸机辅助通气的男性新生儿,36+2周早产,出生后出现呼吸困难及治疗后撤机困难,伴有四肢肌张力低下、吞咽功能障碍及特殊外貌特征(四肢细长、面部狭长、高腭弓、双手垂腕、阴囊空虚、细长指/趾等),经基因检测确诊为XLMTM.其全外显子家系测序结果提示父亲、外公、外婆均无变异,母亲存在杂合变异,致病突变为MTM1(OMIM:300415),染色体位置为chrX-150649714,核苷酸变化为c.868...
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| Published in | Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban Vol. 49; no. 3; pp. 491 - 496 |
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| Main Authors | , |
| Format | Journal Article |
| Language | Chinese English |
| Published |
湖南省长沙市湘雅路110号湘雅医学院
出生缺陷与相关妇儿疾病教育部重点实验室,成都 610041%出生缺陷与相关妇儿疾病教育部重点实验室,成都 610041
28.03.2024
四川大学华西第二医院新生儿护理单元,成都 610041 四川大学华西第二医院儿科,成都 610041 中南大学出版社 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1672-7347 |
| DOI | 10.11817/j.issn.1672-7347.2024.230450 |
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| Abstract | X-连锁肌小管肌病(X-linked myotubular myopathy,XLMTM)是一种罕见的先天性肌病.四川大学华西第二医院于2021年2月收治1例临床表现为肌张力低下、伴有特殊面容、需持续呼吸机辅助通气的男性新生儿,36+2周早产,出生后出现呼吸困难及治疗后撤机困难,伴有四肢肌张力低下、吞咽功能障碍及特殊外貌特征(四肢细长、面部狭长、高腭弓、双手垂腕、阴囊空虚、细长指/趾等),经基因检测确诊为XLMTM.其全外显子家系测序结果提示父亲、外公、外婆均无变异,母亲存在杂合变异,致病突变为MTM1(OMIM:300415),染色体位置为chrX-150649714,核苷酸变化为c.868-2A>C.该患儿具有典型的外貌特征,且经基因检测发现为新发的突变基因.对存在肌张力异常及特殊面容的患儿,早期进行基因检测对准确诊断XLMTM有重要意义. |
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| AbstractList | X-连锁肌小管肌病(X-linked myotubular myopathy，XLMTM)是一种罕见的先天性肌病。四川大学华西第二医院于2021年2月收治1例临床表现为肌张力低下、伴有特殊面容、需持续呼吸机辅助通气的男性新生儿，36+2周早产，出生后出现呼吸困难及治疗后撤机困难，伴有四肢肌张力低下、吞咽功能障碍及特殊外貌特征(四肢细长、面部狭长、高腭弓、双手垂腕、阴囊空虚、细长指/趾等)，经基因检测确诊为XLMTM。其全外显子家系测序结果提示父亲、外公、外婆均无变异，母亲存在杂合变异，致病突变为MTM1(OMIM：300415)，染色体位置为chrX-150649714，核苷酸变化为c.868-2A>C。该患儿具有典型的外貌特征，且经基因检测发现为新发的突变基因。对存在肌张力异常及特殊面容的患儿，早期进行基因检测对准确诊断XLMTM有重要意义。 X-连锁肌小管肌病(X-linked myotubular myopathy,XLMTM)是一种罕见的先天性肌病.四川大学华西第二医院于2021年2月收治1例临床表现为肌张力低下、伴有特殊面容、需持续呼吸机辅助通气的男性新生儿,36+2周早产,出生后出现呼吸困难及治疗后撤机困难,伴有四肢肌张力低下、吞咽功能障碍及特殊外貌特征(四肢细长、面部狭长、高腭弓、双手垂腕、阴囊空虚、细长指/趾等),经基因检测确诊为XLMTM.其全外显子家系测序结果提示父亲、外公、外婆均无变异,母亲存在杂合变异,致病突变为MTM1(OMIM:300415),染色体位置为chrX-150649714,核苷酸变化为c.868-2A>C.该患儿具有典型的外貌特征,且经基因检测发现为新发的突变基因.对存在肌张力异常及特殊面容的患儿,早期进行基因检测对准确诊断XLMTM有重要意义. |
| Abstract_FL | X-linked myotubular myopathy(XLMTM)is a rare congenital myopathy.In February 2021,a male neonate was admitted to the West China Second University Hospital,Sichuan University,with clinical manifestations of hypotonia,accompanied by distinctive facial features,and requiring continuous ventilatory support.He was born prematurely at 36+2 weeks gestation and developed respiratory distress postnatally,followed by difficulty in weaning from mechanical ventilation.Additional clinical features included hypotonia of the limbs,swallowing dysfunction,and specific facial characteristics(elongated limbs,narrow face,high-arched palate,wrist drop,empty scrotum,elongated fingers/toes).Genetic testing confirmed the diagnosis of XLMTM.Whole-exome sequencing analysis of the family revealed no mutations in the father,paternal grandfather,or paternal grandmother,while the mother had a heterozygous mutation.The pathogenic mutation was identified as MTM1 gene(OMIM:300415),chromosome position chrX-150649714,with a nucleotide change of c.868-2A>C.The patient exhibited typical facial features.Genetic testing is crucial for accurate diagnosis of XLMTM in infants presenting with abnormal muscle tone and distinctive facial features. |
| Author | 胡勇 黄希 |
| AuthorAffiliation | 四川大学华西第二医院儿科,成都 610041;出生缺陷与相关妇儿疾病教育部重点实验室,成都 610041%出生缺陷与相关妇儿疾病教育部重点实验室,成都 610041;四川大学华西第二医院新生儿护理单元,成都 610041 |
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| Author_FL | HUANG Xi HU Yong |
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| Copyright | Copyright © Wanfang Data Co. Ltd. All Rights Reserved. Journal of Central South University (Medical Science). All rights reserved. 2024 |
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| DOI | 10.11817/j.issn.1672-7347.2024.230450 |
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| DocumentTitle_FL | Neonatal X-linked myotubular myopathy with a de novo mutation:A case report and literature review |
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| Keywords | MTM1基因 MTM1 gene X-linked myotubular myopathy gene mutation neonate X-连锁肌小管肌病 新生儿 基因突变 |
| Language | Chinese English |
| License | 开放获取(Open access)：本文遵循知识共享许可协议，允许第三方用户按照署名-非商业性使用-禁止演绎4.0(CC BY-NC-ND 4.0)的方式，在任何媒介以任何形式复制、传播本作品(https://creativecommons.org/licenses/by-nc-nd/4.0/) |
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| Notes | 胡勇，Email: huyong1003@163.com, ORCID: 0000-0002-3089-2113 |
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| Publisher | 出生缺陷与相关妇儿疾病教育部重点实验室,成都 610041%出生缺陷与相关妇儿疾病教育部重点实验室,成都 610041 四川大学华西第二医院新生儿护理单元,成都 610041 四川大学华西第二医院儿科,成都 610041 中南大学出版社 |
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| Snippet | X-连锁肌小管肌病(X-linked myotubular myopathy,XLMTM)是一种罕见的先天性肌病.四川大学华西第二医院于2021年2月收治1例临床表现为肌张力低下、伴有特殊面容、需持续呼吸机... X-连锁肌小管肌病(X-linked myotubular myopathy，XLMTM)是一种罕见的先天性肌病。四川大学华西第二医院于2021年2月收治1例临床表现为肌张力低下、伴有特殊面容、需持续呼吸... |
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| Title | 新发突变基因的新生儿X-连锁肌小管肌病1例并文献回顾 |
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