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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Smith-Lemli-Opitz syndrome among Arabs
Clinical Genetics, Volume 82, No. 2, Year 2012
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Description
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of variable presentation caused by the deficiency of the 3β- hydroxycholesterol Δ 7- 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, and 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. © 2011 John Wiley & Sons A/S.
Authors & Co-Authors
Al-Owain, Mohammed Abdulaziz
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Imtiaz, Faiqa Ahmad
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Shuaib, Taghreed
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Edrees, A.
Saudi Arabia, Jeddah
King Abdulaziz University
Al-Amoudi, Mohamed S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Sakati, Nadia A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Hassnan, Zuhair Nasser
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Bamashmous, H.
Saudi Arabia, Jeddah
King Abdulaziz University
Rahbeeni, Zuhair Abdalla
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Ameer, S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Faqeih, Eissa Ali
Saudi Arabia, Riyadh
King Fahad Medical City
Meyer, Brian Francis
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al Hashem, Amal
Saudi Arabia, Riyadh
Riyadh Military Hospital
Garout, W.
Saudi Arabia, Jeddah
King Abdulaziz University
Al-Odaib, Ali Nasser
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Rashed, Mohamed S.
Egypt, Giza
Pharmagene Laboratory
Al-Aama, Jumana Yousuf
Saudi Arabia, Jeddah
King Abdulaziz University
Statistics
Citations: 17
Authors: 17
Affiliations: 6
Identifiers
Doi:
10.1111/j.1399-0004.2011.01742.x
ISSN:
00099163
e-ISSN:
13990004
Research Areas
Genetics And Genomics
Health System And Policy
Noncommunicable Diseases
Study Design
Cross Sectional Study