title: Smith-Lemli-Opitz syndrome among Arabs.
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.
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. alowain@kfshrc.edu.sa
authors.forename: M
authors.initials: M
authors.lastname: Al-Owain
authors.forename: F
authors.initials: F
authors.lastname: Imtiaz
authors.forename: T
authors.initials: T
authors.lastname: Shuaib
authors.forename: A
authors.initials: A
authors.lastname: Edrees
authors.forename: M
authors.initials: M
authors.lastname: Al-Amoudi
authors.forename: N
authors.initials: N
authors.lastname: Sakati
authors.forename: Z
authors.initials: Z
authors.lastname: Al-Hassnan
authors.forename: H
authors.initials: H
authors.lastname: Bamashmous
authors.forename: Z
authors.initials: Z
authors.lastname: Rahbeeni
authors.forename: S
authors.initials: S
authors.lastname: Al-Ameer
authors.forename: E
authors.initials: E
authors.lastname: Faqeih
authors.forename: B
authors.initials: B
authors.lastname: Meyer
authors.forename: A
authors.initials: A
authors.lastname: Al-Hashem
authors.forename: W
authors.initials: W
authors.lastname: Garout
authors.forename: A
authors.initials: A
authors.lastname: Al-Odaib
authors.forename: M
authors.initials: M
authors.lastname: Rashed
authors.forename: J Y
authors.initials: JY
authors.lastname: Al-Aama
mesh_terms: D018912:Arabs / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005091:Exons; D019066:Facies; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase