Primary coenzyme Q10 deficiency in a neonate caused by COQ4 gene variation
10.3760/cma.j.cn113903-20230807-00087
- VernacularTitle:COQ4基因变异致新生儿期起病的原发性辅酶Q10 缺乏症1例
- Author:
Pianpian PAN
1
;
Xiaohui ZHENG
;
Hongmei ZOU
;
Xiaowen CHEN
;
Wei ZHOU
Author Information
1. 广州市妇女儿童医疗中心新生儿科，广州 510623
- Keywords:
Coenzyme Q10 deficiency;
COQ4;
Genetic variation;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2023;26(12):1033-1036
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of primary coenzyme Q10 deficiency caused by a variation in the COQ4 gene. On the first day after birth, the neonate exhibited unexplained feeding difficulties, intermittent cyanosis, and respiratory and circulatory failure. Similar symptoms were observed in his sister, who passed away on the 9th day after birth but no pathogenic variant was detected in whole exome sequencing. After a pathogenic homozygous variant of COQ4 gene c.370G>A was detected in this patient using whole exome sequencing, his sister's result of whole exome sequencing was got and the same variant was found (identified as uncertain significance at that time), and both parents carried a heterozygous variant of c.370G>A. Supplement with clinical manifestations, the infant was diagnosed with coenzyme Q10 deficiency. The infant received respiratory and circulatory support, and after oral supplement of coenzyme Q10, the symptoms were improved. Subsequent follow-up examinations showed that the child had developed epilepsy and psychomotor retardation at about the age of one.
