Title |
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
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Published in |
Orphanet Journal of Rare Diseases, November 2012
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DOI | 10.1186/1750-1172-7-90 |
Pubmed ID | |
Authors |
Hugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe C Gottlieb, Sarah E Lawrence, Alex MacKenzie, Chandree L Beaulieu, Petra A W Mooyer, FORGE Canada Consortium, Ronald J A Wanders, Jacek Majewski, Dennis E Bulman, Michael T Geraghty, Sacha Ferdinandusse, Kym M Boycott |
Abstract |
D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of age. Among patients with prolonged survival all demonstrate severe gross motor delay, absent language development, and severe hearing and visual impairment. DBP contains three catalytically active domains; an N-terminal dehydrogenase, a central hydratase and a C-terminal sterol carrier protein-2-like domain. Three subtypes of the disease are identified based upon the domain affected; DBP type I results from a combined deficiency of dehydrogenase and hydratase activity; DBP type II from isolated hydratase deficiency and DBP type III from isolated dehydrogenase deficiency. Here we report two brothers (16½ and 14 years old) with DBP deficiency characterized by normal early childhood followed by sensorineural hearing loss, progressive cerebellar and sensory ataxia and subclinical retinitis pigmentosa. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Mexico | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
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Unknown | 74 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 16 | 22% |
Researcher | 14 | 19% |
Student > Master | 10 | 14% |
Student > Bachelor | 9 | 12% |
Other | 4 | 5% |
Other | 10 | 14% |
Unknown | 11 | 15% |
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Biochemistry, Genetics and Molecular Biology | 16 | 22% |
Agricultural and Biological Sciences | 11 | 15% |
Pharmacology, Toxicology and Pharmaceutical Science | 4 | 5% |
Nursing and Health Professions | 3 | 4% |
Other | 8 | 11% |
Unknown | 13 | 18% |