Clinical features and genetic analysis of child with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 due to variant of DNA2 gene
10.3760/cma.j.cn511374-20231020-00211
- VernacularTitle:DNA2基因变异所致进行性眼肌麻痹伴线粒体DNA缺失症6型1例患儿的临床特征及遗传学分析
- Author:
Yuanling CHEN
1
;
Lulu YAN
;
Jiangyang XUE
;
Haibo LI
;
Ling WU
;
Jika ZHENG
;
Yazhen DI
Author Information
1. 宁波大学附属妇女儿童医院儿科，宁波 315012
- Keywords:
Ophthalmoplegia;
DNA2 gene;
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6;
Whole exome sequencing;
Musc
- From:
Chinese Journal of Medical Genetics
2024;41(10):1238-1242
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic etiology for a child with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 (PEOA6).Methods:A child who had attended the Women and Children′s Hospital Affiliated to Ningbo University on 7 August, 2023 was selected as the study subject. Clinical data of the child were analyzed retrospectively. The child and her parents were subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing and bioinformatic analysis. This study was approved by Medical Ethics Committee of the Women and Children′s Hospital Affiliated to Ningbo University (Ethics No. EC2020-048).Results:The child, a 7-year-old female, had presented with limb muscle pain, amyosthenia, significantly increased creatine kinase, congenital diaphragmatic hernia and recurrent respiratory tract infections. WES revealed that she has harbored a heterozygous c. 1590G>C (p.L530F) variant of the DNA2 gene, which was verified to have a de novo origin by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1590G>C was rated as a likely pathogenic variant (PS2+ PM2_Supporting+ PP3). Conclusion:The c.1590G>C (p.L530F) variant of the DNA2 gene probably underlay the PEOA6 in this child.
