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2 results on '"Sakati N"'

1. Smith-Lemli-Opitz syndrome among Arabs.

Author

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, and Al-Aama JY

Subjects
Child, Child, Preschool, Consanguinity, Exons, Facies, Female, Homozygote, Humans, Infant, Infant, Newborn, Male, Pedigree, Phenotype, Arabs genetics, Mutation, Oxidoreductases Acting on CH-CH Group Donors genetics, Smith-Lemli-Opitz Syndrome diagnosis, Smith-Lemli-Opitz Syndrome genetics
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., (© 2011 John Wiley & Sons A/S.)

Published
2012
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2. Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs

Author

Sulaiman Al-Mayouf, AlMehaidib A, Bahabri S, Shabib S, Sakati N, and As, Teebi

Subjects
Male, Contracture, Mucous Membrane, Infant, Newborn, Saudi Arabia, Facies, Infant, Syndrome, Skin Diseases, Infant, Newborn, Diseases, Arabs, Consanguinity, Humans, Female, Joint Diseases, Connective Tissue Diseases, Retrospective Studies
Abstract

We retrospectively reviewed 19 patients (11 male, 8 female) with infantile systemic hyalinosis (ISH) seen at a tertiary care hospital. Fifteen patients (83.3%) presented in the neonatal period. The referral diagnosis was inaccurate in 14 patients (73.7%). Thirteen patients were products of first-degree cousin marriages (68%) and 5 families had more than one affected child. All patients had painful joint contractures and typical mucocutaneous changes (hyper-pigmented sclerodermatous skin over the knuckles and malleoli, gingival hyperplasia, subcutaneous and perianal fleshy nodules). Growth failure was noted in all of them and 39% had profuse diarrhea, 72% had low serum albumin. Radiological findings included osteopenia, periosteal reaction and osteolytic lesions. Tissue biopsy was consistent with the diagnosis in the 8 patients who had the biopsies. Despite aggressive management with physiotherapy and different medications (including NSAIDs, penicillamine and methotrexate), the disorder was progressive and none of them showed improvement. 16 patients died with a mean age of 11 months and only 3 are alive with a mean age of 20 months. This report represents the largest series of ISH. Our data suggests that ISH is a commonly diagnosed disorder in Saudi Arabia and among Arabs.

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