Smith-Lemli-Opitz syndrome among Arabs

Al‐Owain M, Imtiaz F, Shuaib T, Edrees A, Al‐Amoudi M, Sakati N, Al‐Hassnan Z, Bamashmous H, Rahbeeni Z, Al‐Ameer S, Faqeih E, Meyer B, Al‐Hashem A, Garout W, Al‐Odaib A, Rashed M, Al‐Aama JY. Smith–Lemli–Opitz syndrome among Arabs. Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive disorde...

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Published in:Clinical genetics 2012-08, Vol.82 (2), p.165-172
Main Authors: Al-Owain, M, Imtiaz, F, Shuaib, T, Edrees, A, Al-Amoudi, M, Sakati, N, Al-Hassnan, Z, Bamashmous, H, Rahbeeni, Z, Al-Ameer, S, Faqeih, E, Meyer, B, Al-Hashem, A, Garout, W, Al-Odaib, A, Rashed, M, Al-Aama, JY
Format: Article
Language:English
Subjects:
3β-hydroxycholesterol Δ7-reductase
7-dehydrocholesterol
7-Dehydrocholesterol reductase
Arab people
Arabs
Arabs - genetics
Biological and medical sciences
Child
Child, Preschool
Cholesterol
cholesterol metabolism
Complex syndromes
Congenital defects
Consanguinity
DHCR7
Exons
Facies
Female
Gas chromatography
Genetic disorders
Growth rate
Hereditary diseases
Homozygote
Humans
Infant
Infant, Newborn
Lung
Male
Mass spectroscopy
Medical genetics
Medical sciences
Mutation
Oxidoreductases Acting on CH-CH Group Donors - genetics
Pedigree
Phenotype
reductase
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz Syndrome - diagnosis
Smith-Lemli-Opitz Syndrome - genetics
Syndactyly
Toe
Veins
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Summary:Al‐Owain M, Imtiaz F, Shuaib T, Edrees A, Al‐Amoudi M, Sakati N, Al‐Hassnan Z, Bamashmous H, Rahbeeni Z, Al‐Ameer S, Faqeih E, Meyer B, Al‐Hashem A, Garout W, Al‐Odaib A, Rashed M, Al‐Aama JY. Smith–Lemli–Opitz syndrome among Arabs. Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive disorder of variable presentation caused by the deficiency of the 3β‐ hydroxycholesterol Δ7‐ 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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2011.01742.x