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Article

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

RNA biology - 3 May 2016

Falk Marni J, Gai Xiaowu, Shigematsu Megumi, Vilardo Elisa, Takase Ryuichi, McCormick Elizabeth, Christian Thomas, Place Emily, Pierce Eric A, Consugar Mark, Gamper Howard B, Rossmanith Walter, Hou Ya-Ming

Abstract excerpt

We report a Caucasian boy with intractable epilepsy and global developmental delay. Whole-exome sequencing identified the likely genetic etiology as a novel p.K212E mutation in the X-linked gene HSD17B10 for mitochondrial short-chain dehydrogenase/reductase SDR5C1. Mutations in HSD17B10 cause the HSD10 disease, traditionally classified as a metabolic disorder due to the role of SDR5C1 in fatty and amino acid...

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Identifiers

PMID: 26950678
DOI: 10.1080/15476286.2016.1159381
PMCID: PMC4962811

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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