COQ4基因变异致新生儿期起病的原发性辅酶Q10缺乏症1例  

Primary coenzyme Q10 deficiency in a neonate caused by COQ4 gene variation

作　　者：潘翩翩 郑晓辉[2] 邹红梅 陈晓文 周伟 Pan Pianpian;Zheng Xiaohui;Zou Hongmei;Chen Xiaowen;Zhou Wei(Department of Neonatology,Guangzhou Women and Children's Medical Center,Guangzhou 510623,China;Department of Pediatrics,the First Affiliated Hospital of Shantou University Medical College,Shantou 515041,China)

机构地区：[1]广州市妇女儿童医疗中心新生儿科,广州510623 [2]汕头大学医学院第一附属医院儿科,汕头515041

出　　处：《中华围产医学杂志》2023年第12期1033-1036,共4页Chinese Journal of Perinatal Medicine

摘　　要：本文报道1例COQ4基因变异导致的新生儿期起病的原发性辅酶Q10缺乏症病例。患儿生后当天出现不明原因的喂养困难、间断发绀、呼吸和循环衰竭。其同胞姐姐有类似病史,生后9 d死亡,全外显子组测序未检出致病性变异。本例患儿全外显子组测序检出COQ4基因c.370G>A致病性纯合变异。追查姐姐全外显子组测序结果,获知COQ4基因c.370G>A纯合变异(当时定义为临床意义未明),Sanger测序验证发现其父母均为c.370G>A杂合变异。结合临床表现,诊断原发性辅酶Q10缺乏症。给予呼吸循环支持并口服补充辅酶Q10后症状缓解,近1岁时随访显示患儿存在癫痫和精神运动发育落后。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.

关 键 词：辅酶Q10缺乏症 COQ4基因 遗传变异 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]