Su Junyou, Zeng Lingdong, Chen Hongfei, Tong Junru, Chen Yan, Huang Lingling, Deng Li, Huang Yan
Department of Obstetrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530007, People's Republic of China.
Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530007, People's Republic of China.
Int J Womens Health. 2025 Jan 28;17:179-183. doi: 10.2147/IJWH.S505352. eCollection 2025.
COX20-related mitochondrial complex IV deficiency is a rare autosomal recessive metabolic disorder that arises from biallelic loss-of-function mutations. Given the lack of specific treatments, affected children are at a heightened risk of disability. Consequently, prenatal counseling and prenatal diagnosis should be conducted to reduce the birth rate of children with such mitochondrial diseases. We report a case of COX20 gene associated mitochondrial complex IV deficiency in a child, and describe the prenatal counseling and prenatal diagnosis of the mother in subsequent pregnancies to provide reference for prenatal counseling and prenatal diagnosis of this disease.
In this study, we presented a case of a pediatric patient who displayed symptoms such as gait instability, ataxia, cognitive impairment, dysarthria, muscle weakness, and absent reflexes. Through the application of whole-exome sequencing (WES), compound heterozygous COX20 mutations (c.41A>G and c.259C>T) were detected, leading to the confirmation of a diagnosis of mitochondrial complex IV deficiency. A thorough review of the existing literature revealed seven additional cases carrying the same mutations. Moreover, this report delineated the process of prenatal counseling and diagnostic testing that was undertaken for the subsequent pregnancy of the patient's mother.
The presence of ataxia, cognitive impairment, and peripheral neuropathy in children should prompt consideration of COX20-related mitochondrial disease. Utilizing WES is beneficial for identifying COX20 mutations, and offering prenatal counseling and diagnostic testing to mothers of affected children can reduce the birth rate of children with such mitochondrial diseases.
COX20相关的线粒体复合物IV缺乏症是一种罕见的常染色体隐性代谢紊乱疾病，由双等位基因功能丧失突变引起。由于缺乏特异性治疗方法，患病儿童出现残疾的风险增加。因此，应进行产前咨询和产前诊断以降低此类线粒体疾病患儿的出生率。我们报告一例儿童COX20基因相关的线粒体复合物IV缺乏症病例，并描述该患儿母亲后续妊娠时的产前咨询和产前诊断情况，为该病的产前咨询和产前诊断提供参考。
在本研究中，我们报告了一例儿科患者，其表现出步态不稳、共济失调、认知障碍、构音障碍、肌肉无力和反射消失等症状。通过应用全外显子组测序（WES），检测到复合杂合的COX20突变（c.41A>G和c.259C>T），从而确诊为线粒体复合物IV缺乏症。对现有文献的全面回顾发现另外7例携带相同突变的病例。此外，本报告还描述了对该患者母亲后续妊娠进行产前咨询和诊断检测的过程。
儿童出现共济失调、认知障碍和周围神经病变时，应考虑COX20相关的线粒体疾病。利用WES有助于识别COX20突变，为患病儿童的母亲提供产前咨询和诊断检测可降低此类线粒体疾病患儿的出生率。
