One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.

Frontiers in pediatrics（2022）

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摘要

In CACT deficiency, prompt recognition and treatment are critical. Our data suggested that c.199-10T > G may be a potential hotspot gene mutation in the Chinese population. Detection of single nucleotide polymorphism is possible for high-risk patients and parents in China.

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关键词

CACT deficiency,SLC25A20 gene,c.199–10T > G,hotspot mutation,single nucleotide polymorphism detection

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