| Smith-Lemli-Opitz Syndrome among Arabs. | |
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MedLine Citation:
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PMID: 21696385 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Smith-Lemli-Opitz Syndrome is an autosomal recessive disorder of variable presentation caused by the deficiency of the 3β- hydroxycholesterol Δ- reductase. Over the past 10 years, our biochemical laboratory has screened 191 plasma samples for possible SLOS measuring the plasma cholesterol and 7-dehydrocholesterol using gas chromatography-mass spectrometry (GC-MS). The SLOS was confirmed in only five Arab patients with growth retardation, global developmental delay, dysmorphic features, 2-3 toe syndactyly, among other findings. All cases represented moderate to severe form of SLOS. One patient had a unique cardiovascular malformation (cor triatriatum with significant obstruction of the right pulmonary veins). Two previously reported N287K (861 C>A) and R352Q (1055 G>A), and a novel R352L (1055 G>T) mutations were identified in the DHCR7 gene in these patients. The paper sheds light on this rare disease among Arabs and reviews all reported SLOS cases in the Arab population. |
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Authors:
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M Al-Owain; F Imtiaz; T Shuaib; A Edrees; M Al-Amoudi; N Sakati; Z Al-Hassnan; H Bamashmous; Z Rahbeeni; S Al-Ameer; E Faqeih; B Meyer; A Al-Hashem; W Garout; A Al-Odaib; M Rashed; Jy Al-Aama |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-23 |
Journal Detail:
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Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-6-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2011 John Wiley & Sons A/S. |
Affiliation:
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Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia College of Medicine, Alfaisal University, Riyadh, Saudi Arabia Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia Department of Pediatrics, Armed Forces Hospital, Riyadh, Saudi Arabia Pharmagene Laboratory, 5 Amman Street, Dokki 12311, Giza, Egypt Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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