儿童神经病学半岛投注体育官网:进步的小脑萎缩和视网膜营养不良-线索一件ACO2-Related Neurometabolic诊断

文摘

致病性bi-allelic变体在ACO2编码酶线粒体顺乌头酸酶,与ACO2-related的非常罕见的诊断小儿小脑视网膜变性(人类614559)。我们描述一个四岁的女病人的诊断奥德赛与深刻的全球发育迟缓,头小畸型,严重的张力减退,视网膜萎缩症,癫痫发作,进步的小脑萎缩。全外显子组测序(韦斯)显示两个变量ACO2;c。2105_2106delAG (p.Gln702ArgfsX9), a likely pathogenic variant, and c.988C>T (p.Pro330Ser) which was classified as a variant of uncertain significance (VUS). While the VUS was confirmed to be maternally inherited, the phase of the other variant could not be confirmed due to lack of a paternal sample. Functional biochemical studies were performed on a research basis to clarify the interpretation of the VUS, which enabled clinical confirmation of the diagnosis of ACO2-related Infantile Cerebellar Retinal Degeneration for our patient.