Primary coenzyme Q10 deficiency in a neonate caused by COQ4 gene variation / 中华围产医学杂志

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.

Clinical characteristics and genetic analysis of primary coenzyme Q10 deficiency caused by COQ4 gene mutation / 中华内分泌代谢杂志

Objective@#To explore the clinical and genetic characteristics of primary coenzyme Q10 deficiency caused by coenzyme Q4 (COQ4) variants.@*Methods@#Clinical data were collected, while COQ4 gene was sequenced.@*Results@#Here were reported a boy of 3 months old who came to our hospital presented with feeding difficulties, repeated respiratory infections, convulsions for 3 months. He was subsequently diagnosed as cerebral atrophy, and growth retardation. All exons were sequenced.c.211G>A(p.A71T, maternal), c. 436T>A(p.F146I, paternal) were detected. After treatment with coenzyme Q10, the convulsive symptoms improved significantly. Literature review revealed that totally 14 cases with primary coenzyme Q10 deficiency caused by COQ4 gene mutation were reported. The onset age varies from neonatal to 18 years old, and the clinical manifestations are heterogeneous, including cardiomyopathy, epilepsy, ataxia, cerebellar atrophy, respiratory insufficiency, and growth retardation.@*Conclusion@#For cases with atypical clinical manifestations of primary coenzyme Q10 deficiency, gene detection is helpful for an early diagnosis and treatment.

Clinical characteristics and genetic analysis of primary coenzyme Q10 deficiency caused by COQ4 gene mutation / 中华内分泌代谢杂志

Objective To explore the clinical and genetic characteristics of primary coenzyme Q10 deficiency caused by coenzyme Q4 ( COQ4) variants. Methods Clinical data were collected, while COQ4 gene was sequenced. Results Here were reported a boy of 3 months old who came to our hospital presented with feeding difficulties, repeated respiratory infections, convulsions for 3 months. He was subsequently diagnosed as cerebral atrophy, and growth retardation. All exons were sequenced.c.211G>A(p.A71T, maternal), c.436T>A(p.F146I, paternal) were detected. After treatment of coenzyme Q10, the convulsive symptoms improved significantly. Literature review revealed that totally 14 cases with primary coenzyme Q10 deficiency caused by COQ4 gene mutation were repoted. The onset age varies from neonatal to 18 years old, and the clinical manifestations are heterogeneous, including cardiomyopathy, epilepsy, ataxia, cerebellar atrophy, respiratory insufficiency, and growth retardation. Conclusion For cases with atypical clinical manifestations of primary coenzyme Q10 deficiency, gene detection is helpful for an early diagnosis and treatment.