Introduction: Genetic Diversity Among Arabs

Teebi, Ahmad S.

doi:10.1007/978-3-642-05080-0_1

Cited by 15 publications

(10 citation statements)

References 173 publications

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“…The fact that many reported cases came from an Arab origin, cases from Morocco, Gaza [3], Lebanon [8,14,28], and Egypt [29,30], suggests a relatively high frequency of the DYM gene in Arabs, which is a finding that needs further confirmation. This was also pointed out by Teebi [31]. It would be of interest to characterize the mutations of our cases.…”

Section: Discussionsupporting

confidence: 62%

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Aglan

Temtamy

Fateen

et al. 2009

Journal of Children's Orthopaedics

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Introduction Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive type of skeletal dysplasia. It is characterized by the association of progressive spondyloepimetaphyseal dysplasia (SEMD), microcephaly, mental retardation (MR), and coarse facies. The radiographic appearance of generalized platyspondyly with double-humped end plates and the lace-like appearance of iliac crests are pathognomonic and distinctive of DMC syndrome. The disorder results from mutations in the DYM gene mapped in the 18q12-12.1 chromosomal region. Materials and methodsIn this report, we studied 15 Egyptian cases with DMC syndrome from nine unrelated families. We aimed to emphasize the characteristic clinical and radiological features in order to differentiate the condition from other SEMDs and mucopolysaccharidosis (MPS). Patients were subjected to detailed history taking, three-generation family pedigree analysis, complete physical examination, anthropometric measurements, quantitative estimation, and two-dimensional electrophoresis of glycosaminoglycans in the urine and measurement of a-L-iduronidase and galactose-6-sulfatase enzyme activities to exclude Hurler and Morquio diseases (MPS type I and MPS type IVA), respectively. Other investigations were carried out whenever indicated. All patients were the offspring of consanguineous apparently normal parents. Positive family history and similarly affected sibs were noted, confirming the autosomal recessive inheritance pattern of the syndrome. Short stature, microcephaly, variable degree of MR, and coarse facies were constant features. The frequency of characteristic orthopedic and radiological findings was reported. Orthopedic surgical intervention was carried out for two patients. Conclusions The study concluded that DMC syndrome may be more frequent in Egypt than previously thought, especially due to misdiagnosis. Characteristic facial dysmorphism, body habitus, and pathognomonic radiological signs suggest the diagnosis and differentiate it from other types of SEMDs and MPS for proper genetic counseling and management.

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Section: Discussionsupporting

confidence: 62%

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Aglan

Temtamy

Fateen

et al. 2009

Journal of Children's Orthopaedics

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“…AlSafar and colleagues have recently reported that approximately 80% of patients with T2DM within UAE present with at least one complication associated with T2DM, including kidney disease (approximately 6%) 29. Furthermore, there is increasing evidence suggesting that the genome structure of individuals of Arabic descent is different from individuals from other populations 30. Despite the high prevalence rate of DKD in the UAE, there have been no investigations up to date of the genetic associations of chronic kidney conditions and kidney functions, particularly as associated with T2DM.…”

Section: Introductionmentioning

confidence: 99%

Clinical and genetic associations of renal function and diabetic kidney disease in the United Arab Emirates: a cross-sectional study

et al. 2018

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ObjectivesWithin the Emirati population, risk factors and genetic predisposition to diabetic kidney disease (DKD) have not yet been investigated. The aim of this research was to determine potential clinical, laboratory and reported genetic loci as risk factors for DKD.Research design and methodsFour hundred and ninety unrelated Emirati nationals with type 2 diabetes mellitus (T2DM) were recruited with and without DKD, and clinical and laboratory data were obtained. Following adjustments for possible confounders, a logistic regression model was developed to test the associations of 63 single nucleotide polymorphisms (SNPs) in 43 genetic loci with DKD (145 patients with DKD and 265 without DKD). Linear regression models, adjusted for age and gender, were then used to study the genetic associations of five renal function traits, including 83 SNPs with albumin-to-creatinine ratio, 92 SNPs with vitamin D (25-OH cholecalciferol), 288 SNPs with estimated glomerular filtration rate (eGFR), 363 SNPs with serum creatinine and 73 SNPs with blood urea.ResultsPatients with DKD, as compared with those without the disease, were mostly men (52%vs38% for controls), older (67vs59 years) and had significant rates of hypertension and dyslipidaemia. Furthermore, patients with DKD had T2DM for a longer duration of time (16vs10 years), which in an additive manner was the single factor that significantly contributed to the development of DKD (p=0.02, OR=3.12, 95% CI 1.21 to 8.02). Among the replicated associations of the genetic loci with different renal function traits, the most notable included SHROOM3 with levels of serum creatinine, eGFR and DKD (Padjusted=0.04, OR=1.46); CASR, GC and CYP2R1 with vitamin D levels; as well as WDR72 with serum creatinine and eGFR levels.ConclusionsAssociations were found between several genetic loci and risk markers for DKD, which may influence kidney function traits and DKD in a population of Arab ancestry.

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“…High rates of consanguinity among Arabs (20-70%) reduce gene pool size and increase the frequency of autosomal recessive disorders. More than 1,500 genetic diseases in Arab countries have been reported [39]. Health care in the region is inadequate and patchy.…”

Section: Discussionmentioning

confidence: 99%

“…Several factors increase malformations and handicaps in the area, such as high inbreeding rates, large family size, a high maternal age of bearing children, and region governments focusing their efforts on disease treatment rather than its prevention [39]. High rates of consanguinity among Arabs (20-70%) reduce gene pool size and increase the frequency of autosomal recessive disorders.…”

Section: Discussionmentioning

confidence: 99%

Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23

Ramadan

Shawar²,

Ghamdi³

2016

Horm Res Paediatr

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Background: Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause autosomal dominant hypophosphatemic rickets and seven substitutions to cause autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Both disorders are rare in the general population and occur most often in the Eastern Mediterranean region and Africa. None of the mutations could be identified using standard restriction fragment length polymorphism. The only technique currently available to confirm the clinical diagnosis is DNA sequencing. Methods: Using a tri-primer ARMS-PCR, in vitro site-directed mutagenesis and DNA sequencing, we developed, verified and validated a rapid and reliable diagnostic test for the ten mutations in FGF23. Results: We generated a test for all ten mutations and confirmed each test by DNA sequencing. We increased the specificity of the test by introducing a mismatch at position -2 in the 3′-terminus of the reverse primer of the normal and the mutant sequences. Finally, using DNA sequencing, we validated the technique for FGF23/S129F substitution by testing samples from 80 individuals from two unrelated Arab families harboring HFTC. Conclusions: This inexpensive and specific method could be adopted where DNA sequencing is not available or affordable.

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Introduction: Genetic Diversity Among Arabs

Cited by 15 publications

References 173 publications

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Clinical and genetic associations of renal function and diabetic kidney disease in the United Arab Emirates: a cross-sectional study

Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23

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