A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

doi:10.1371/journal.pone.0027348

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Article

A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

PloS one - 1 Jan 2011

Seaver Laurie H, He Xue-Ying, Abe Keith, Cowan Tina, Enns Gregory M, Sweetman Lawrence, Philipp Manfred, Lee Sansan, Malik Mazhar, Yang Song-Yu

Abstract excerpt

Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense mutations in this gene result in HSD10 deficiency, whereas a silent mutation results in mental retardation, X-linked, syndromic 10 (MRXS10). Here we report a novel missense mutation found in the HSD17B10 gene, namely c.194T>C transition (rs104886492), brought about by the loss of two...

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PMID: 22132097
DOI: 10.1371/journal.pone.0027348
PMCID: PMC3222643

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