Abstract |
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.
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Authors | 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, J Y Al-Aama |
Journal | Clinical genetics
(Clin Genet)
Vol. 82
Issue 2
Pg. 165-72
(Aug 2012)
ISSN: 1399-0004 [Electronic] Denmark |
PMID | 21696385
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2011 John Wiley & Sons A/S. |
Chemical References |
- Oxidoreductases Acting on CH-CH Group Donors
- 7-dehydrocholesterol reductase
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Topics |
- Arabs
(genetics)
- Child
- Child, Preschool
- Consanguinity
- Exons
- Facies
- Female
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Oxidoreductases Acting on CH-CH Group Donors
(genetics)
- Pedigree
- Phenotype
- Smith-Lemli-Opitz Syndrome
(diagnosis, genetics)
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