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Article

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.

Journal of human genetics - 1 Apr 2013

Sambuughin Nyamkhishig, Liu Xinyue, Bijarnia Sunita, Wallace Tarina, Verma Ishwar C, Hamilton Susan, Muldoon Sheila, Tallon Luke J, Wang Shuishu

Abstract excerpt

We applied whole-exome sequencing (WES) for identification of an underlying genetic cause of a disease in a family presented with fatal infantile hyperthermia. Analysis of WES results revealed novel, deleterious compound missense mutations, Val160Ala and Pro233Thr, in the synthesis of cytochrome C oxidase 2 gene (SCO2) encoding a mitochondrial protein, Sco2, which is important for cytochrome C oxidase (COX)...

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Identifiers

PMID: 23364397
DOI: 10.1038/jhg.2012.156

Genes

SCO2

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