Chapter title |
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings
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Chapter number | 547 |
Book title |
JIMD Reports, Volume 32
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Published in |
JIMD Reports, June 2016
|
DOI | 10.1007/8904_2016_547 |
Pubmed ID | |
Book ISBNs |
978-3-66-254384-9, 978-3-66-254385-6
|
Authors |
Richardson, Annely, Berry, Gerard T, Garganta, Cheryl, Abbott, Mary-Alice, Annely Richardson, Gerard T. Berry, Cheryl Garganta, Mary-Alice Abbott |
Editors |
Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
Abstract |
Hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) deficiency (HSD10 disease) is a rare X-linked neurodegenerative condition caused by abnormalities in the HSD17B10 gene. A total of 10 mutations have been reported in the literature since 2000. Described phenotypes include a severe neonatal or progressive infantile form with hypotonia, choreoathetosis, seizures, cardiomyopathy, neurodegeneration, and death, as well as an attenuated form with variable regression. Here we present the second report of a c.194T>C (p.V65A) mutation in two half-brothers with a clinical phenotype characterized by neurodevelopmental delay, choreoathetosis, visual loss, cardiac findings, and behavioral abnormalities, with regressions now noted in the older sibling. Neither has experienced a metabolic crisis. Both of the siblings had normal tandem mass spectroscopy analysis of their newborn screening samples. The older brother's phenotype may be complicated by the presence of a 3q29 microduplication. Diagnosis requires a high index of suspicion, as the characteristic urine organic acid pattern may escape detection. The exact pathogenic mechanism of disease remains to be elucidated, but may involve the non-dehydrogenase functionalities of the HSD10 protein. Our report highlights clinical features of two patients with the less fulminant phenotype associated with a V65A mutation, compares the reported phenotypes to date, and reviews recent findings regarding the potential pathophysiology of this condition. Summary Sentence Hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) disease (HSD10 disease) is a rare X-linked neurodegenerative condition with a variable clinical phenotype; diagnosis requires a high index of suspicion. |
X Demographics
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United States | 1 | 50% |
Unknown | 1 | 50% |
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Members of the public | 2 | 100% |
Mendeley readers
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Unknown | 11 | 100% |
Demographic breakdown
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Researcher | 3 | 27% |
Student > Bachelor | 2 | 18% |
Unspecified | 1 | 9% |
Student > Postgraduate | 1 | 9% |
Student > Doctoral Student | 1 | 9% |
Other | 0 | 0% |
Unknown | 3 | 27% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 3 | 27% |
Unspecified | 1 | 9% |
Agricultural and Biological Sciences | 1 | 9% |
Psychology | 1 | 9% |
Social Sciences | 1 | 9% |
Other | 1 | 9% |
Unknown | 3 | 27% |