遗传代谢性疾病专栏

多发性线粒体功能障碍综合征6 型1 例报告并文献复习

  • WU Yuhui ,
  • ZHANG Tao ,
  • YANG Yanlan ,
  • et al
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  • 深圳市儿童医院儿童重症监护病房( 广东深圳 518038)

网络出版日期: 2020-08-11

基金资助

深圳市卫生系统科研项目(No.201606035)

A novel mutation in the PMPCB gene associated with multiple mitochondrial dysfunction syndrome 6 and literature review

  • 武宇辉,张涛,杨燕澜,等
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  • PICU, Shenzhen Children’s Hospital, Shenzhen 518038, Guangdong, China

Online published: 2020-08-11

摘要

 目的 探讨PMPCB基因变异导致多发性线粒体功能障碍综合征6型(MMDS6)的临床表型和基因变异特点。 方法 回顾分析1例MMDS6患儿的临床资料,并结合文献进行复习。结果 患儿,男, 5月龄。表现为体质量不增、喂养 困难、运动发育倒退、四肢肌张力低,伴高乳酸血症、心力衰竭。心脏彩超示肺动脉高压。全外显子和线粒体基因测序显示 PMPCB基因c.524G>A纯合核苷酸变异,父母均为杂合子,该纯合变异尚未见文献报道。结论 PMPCB基因c.524G>A 纯合核苷酸变异是MMDS6的致病变异。二代基因测序有助于基因型诊断。

本文引用格式

WU Yuhui , ZHANG Tao , YANG Yanlan , et al . 多发性线粒体功能障碍综合征6 型1 例报告并文献复习[J]. 临床儿科杂志, 2020 , 38(8) : 582 . DOI: 10.3969/j.issn.1000-3606.2020.08.006

Abstract

 Objectives To investigate the clinical and PMPCB genetic mutation features of multiple mitochondrial dysfunctions syndrome 6 (MMDS6). Methods The clinical data of a case with MMDS6 were retrospectively analyzed and related literature was reviewed. Results A 5-months-old boy presented with poor weight gain and feeding difficulty, delayed motor development and hypotonia, with lactic acidosis and heart failure. Echocardiography showed pulmonary hypertension. A homozygous nucleotide variation of c.524G>A in PMPCB gene was found through whole-exome and mitochondrial genome sequencing analysis, which has not been reported before in literature and both parents were heterozygotes. Conclusion The homozygous nucleotide variation c.524G>A in PMPCB gene was pathogenic variants for MMDS6. Next-generation sequencing may provide diagnosis for the disease.
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