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ACAD9 基因新发变异致线粒体复合物 I 缺乏症20 型1 例报告并文献复习

  • CUI Qingyang ,
  • CAO Yinli ,
  • TANG Chenghe ,
  • et al
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  • 新乡医学院第一附属医院儿科(河南卫辉 453100)

网络出版日期: 2021-07-01

Mitochondrial complex I deficiency nuclear type 20 caused by a novel variation of ACAD9 gene: a case report and literature review

  • 崔清洋,曹银利,唐成和,等
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  • Department of Pediatrics, The First Affiliated Hospital of Xinxiang Medical College, Weihui 453100, Henan, China

Online published: 2021-07-01

摘要

目的 提高对线粒体复合物 I 缺乏症20型(MC 1 DN 20)临床表型及基因型的认识。方法 回顾分析1例 MC 1 DN 20患儿的临床资料并复习相关文献。结果 男性患儿,出生后即表现为精神及反应差,顽固性代谢性酸中毒及高 乳酸血症和肝脏增大。全外显子基因测序发现ACAD 9基因变异,c.1278+1G>A为母源性剪切变异,c.895 A>T 为父源 性错义变异;线粒体基因二代测序及MLPA未发现受检者有临床意义的线粒体基因变异及大片段变异。结论 发现导致 MC 1 DN 20的新的线粒体核基因ACAD9的c. 1278 + 1 G>A剪切变异和c. 895 A>T错义变异 。

本文引用格式

CUI Qingyang , CAO Yinli , TANG Chenghe , et al . ACAD9 基因新发变异致线粒体复合物 I 缺乏症20 型1 例报告并文献复习[J]. 临床儿科杂志, 2021 , 39(7) : 538 . DOI: 10.3969/j.issn.1000-3606.2021.07.014

Abstract

Objective To improve the understanding of the clinical phenotype and genotype of mitochondrial complex I deficiency nuclear type 20 (MC 1 DN 20 ). Methods The clinical data of mitochondrial complex I deficiency nuclear type 20 in a child was analyzed retrospectively and the related literature was reviewed. Results A boy was born with poor spirit and reaction, refractory metabolic acidosis, hyperlactacidemia and liver enlargement. A maternal splicing mutation of c.1278 +1 G>A and a paternal missense mutation of c. 895 A>T were found in ACAD 9 gene by whole exome gene sequencing. No significant mitochondrial gene variation and large fragment variation was found in the second-generation sequencing of mitochondrial gene and multiplex ligation-dependent probe amplification. Conclusion It was found that the c.1278 + 1 G>A splicing mutation and the c.895 A>T missense mutation of the new mitochondrial nuclear gene ACAD9 leads to MC1 DN 20 .
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