| Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. | |
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MedLine Citation:
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PMID: 12189593 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis. This patient presented with a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. In the patient's plasma and cells, we found increased levels of lathosterol. The biosynthesis of cholesterol in the patient's fibroblasts was defective, showing a block in the conversion of lathosterol into 7-dehydrocholesterol. The activity of 3beta-hydroxysteroid-Delta(5)-desaturase (SC5D), the enzyme involved in this reaction, was deficient in the patient's fibroblasts. Sequence analysis of the SC5D gene in the patient's DNA, showing the presence of two missense mutations (R29Q and G211D), confirmed that the patient is affected by a novel defect of cholesterol biosynthesis. |
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Authors:
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Nicola Brunetti-Pierri; Gaetano Corso; Massimiliano Rossi; Paola Ferrari; Fiorella Balli; Francesco Rivasi; Ida Annunziata; Andrea Ballabio; Antonio Dello Russo; Generoso Andria; Giancarlo Parenti |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2002-08-20 |
Journal Detail:
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Title: American journal of human genetics Volume: 71 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2002 Oct |
Date Detail:
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Created Date: 2002-09-25 Completed Date: 2002-10-28 Revised Date: 2012-05-25 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 952-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Federico II University, Naples, Italy. |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/118450; 207410; 215140; 270400; 302960; 308050; 602398 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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enzymology*,
metabolism Cholesterol / metabolism* Humans Infant Intellectual Disability / enzymology*, metabolism Oxidoreductases / deficiency, genetics, metabolism* Oxidoreductases Acting on CH-CH Group Donors* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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E.0790//Telethon; TGM06S01//Telethon |
| Chemical | |
Reg. No./Substance:
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57-88-5/Cholesterol; 80-99-9/lathosterol; EC 1.-/Oxidoreductases; EC 1.14.21.6/lathosterol delta-5-dehydrogenase; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors |
| Comments/Corrections | |
Erratum In:
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Am J Hum Genet. 2003 Aug;73(2):445 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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