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The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. Lenski C, et al. Am J Hum Genet. 2007 Feb;80(2):372-7. doi: 10.1086/511527. Epub 2006 Dec 28. Am J Hum Genet. 2007. PMID: 17236142 Free PMC article.
Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS …
Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique …
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Yang SY, He XY, Miller D. Yang SY, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):36-42. doi: 10.1016/j.ymgme.2007.06.001. Epub 2007 Jul 6. Mol Genet Metab. 2007. PMID: 17618155 Review.
The HSD17B10 gene maps on chromosome Xp11.2, a region highly associated with X-linked mental retardation. ...A silent mutation (c.605C-->A) and three missense mutations (c.395C-->G; c.419C-->T; c.771A-->G), respectively, cause the …
The HSD17B10 gene maps on chromosome Xp11.2, a region highly associated with X-linked mental retardation. …
Hydroxysteroid (17β) dehydrogenase X in human health and disease.
Yang SY, He XY, Miller D. Yang SY, et al. Mol Cell Endocrinol. 2011 Aug 22;343(1-2):1-6. doi: 10.1016/j.mce.2011.06.011. Epub 2011 Jun 25. Mol Cell Endocrinol. 2011. PMID: 21708223 Review.
Hydroxysteroid (17beta) dehydrogenase 10 (HSD10), the HSD17B10 gene product, is a mitochondrial NAD(+)-dependent dehydrogenase. ...Missense mutations of HSD10 may cause neurodegeneration related to HSD10 deficiency, whereas a silent mutation of HSD10 results in mental …
Hydroxysteroid (17beta) dehydrogenase 10 (HSD10), the HSD17B10 gene product, is a mitochondrial NAD(+)-dependent dehydrogenase. ...Mi …
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Seaver LH, He XY, Abe K, Cowan T, Enns GM, Sweetman L, Philipp M, Lee S, Malik M, Yang SY. Seaver LH, et al. PLoS One. 2011;6(11):e27348. doi: 10.1371/journal.pone.0027348. Epub 2011 Nov 22. PLoS One. 2011. PMID: 22132097 Free PMC article.
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 …
Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense mut …
A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.
Reyniers E, Van Bogaert P, Peeters N, Vits L, Pauly F, Fransen E, Van Regemorter N, Kooy RF. Reyniers E, et al. Am J Hum Genet. 1999 Nov;65(5):1406-12. doi: 10.1086/302638. Am J Hum Genet. 1999. PMID: 10521307 Free PMC article.
Choreoathetosis is a major clinical feature in only a small number of hereditary neurological disorders. We define a new X-linked syndrome with a unique clinical picture characterized by mild mental retardation, choreoathetosis, and ab …
Choreoathetosis is a major clinical feature in only a small number of hereditary neurological disorders. We define a new X- …