A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

@inproceedings{Seaver2011ANM,
  title={A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability},
  author={Laurie H. Seaver and X He and Keith Abe and Tina M. Cowan and Gregory M. Enns and Lawrence Sweetman and Manfred Philipp and Sansan Lee and Mazhar N. Malik and Song-Yu Yang},
  booktitle={PloS one},
  year={2011}
}
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 forked methyl groups of valine 65 in the HSD10 active site. The affected boy, who… CONTINUE READING

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References

Publications referenced by this paper.
Showing 1-10 of 28 references

Does the HSD17B10 gene escape from X-inactivation?

European Journal of Human Genetics • 2011
View 1 Excerpt

Hydroxysteroid (17β) dehydrogenase X in human health and disease.

Molecular and cellular endocrinology • 2011
View 1 Excerpt

Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.

Proceedings of the National Academy of Sciences of the United States of America • 2009
View 7 Excerpts

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