Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates

2015 ◽  
Vol 170 (3) ◽  
pp. 602-609 ◽  
Author(s):  
Asma Deeb ◽  
Abdelhadi Habeb ◽  
Walid Kaplan ◽  
Salima Attia ◽  
Suha Hadi ◽  
...  
Keyword(s):  
United Arab Emirates ◽  
Neonatal Diabetes ◽  
Clinical Spectrum ◽  
Genetic Characteristics

scholarly journals Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children

2020 ◽  
Vol 2020 (1) ◽  
Author(s):  
Salwa A. Musa ◽  
Areej A. Ibrahim ◽  
Samar S. Hassan ◽  
Matthew B Johnson ◽  
Asmahan T. Basheer ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Novel Mutation ◽  
Wide Spectrum ◽  
Rare Condition ◽  
Neonatal Diabetes ◽  
Abdominal Ultrasound ◽  
Sub Saharan Africa ◽  
High Rate ◽  
Genetic Characteristics ◽  
Sub Saharan

Abstract Background Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS from Sub-Saharan Africa. Here, we describe the clinical, biochemical and genetic characteristics of our patients with FBS from Sudan, a country with a high consanguinity rate. Patients & methods Eleven patients from ten unrelated Sudanese families were included. Clinical & biochemical data were documented and imaging studies done including bone survey and abdominal ultrasound. Liver biopsy was done to confirm the pathological diagnosis in 45% of cases and molecular genetics was performed through contribution with the Exeter genomics laboratory for ten patients. Results Reported consanguinity was 70% among our patients. Growth was significantly impaired at presentation with mean weights of (-5.3 ± 1.8) SD and heights (-5.4 ± 2.5) SD. Severe chest deformity was present in (27%) and all patients showed features of rickets at presentation. Three patients had neonatal diabetes requiring insulin therapy of which one has been reported before. Six families lost undiagnosed siblings with similar clinical presentations. We identified a total of four homozygous pathogenic SLC2A2 variants in our patients, one of whom had a novel mutation. Conclusions FBS is not uncommon in Sudan where there is a high rate of consanguinity. Many cases are likely missed because of variable presentation and lack of public and professionals’ awareness. This is the first series to describe this condition from Sub-Saharan Africa.

scholarly journals The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar

2019 ◽  
Vol 7 (10) ◽  
Author(s):  
Sara Al‐Khawaga ◽  
Idris Mohammed ◽  
Saras Saraswathi ◽  
Basma Haris ◽  
Reem Hasnah ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
The State ◽  
Permanent Neonatal Diabetes ◽  
Genetic Characteristics

scholarly journals A Population-Specific Major Allele Reference Genome From The United Arab Emirates Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Gihan Daw Elbait ◽  
Andreas Henschel ◽  
Guan K. Tay ◽  
Habiba S. Al Safar
Keyword(s):  
United Arab Emirates ◽  
Reference Genome ◽  
Ethnic Composition ◽  
Loss Of Function ◽  
High Coverage ◽  
Genetic Characteristics ◽  
Sequencing Project ◽  
Consensus Sequences ◽  
Genome Sequencing Effort ◽  
Major Allele

The ethnic composition of the population of a country contributes to the uniqueness of each national DNA sequencing project and, ideally, individual reference genomes are required to reduce the confounding nature of ethnic bias. This work represents a representative Whole Genome Sequencing effort of an understudied population. Specifically, high coverage consensus sequences from 120 whole genomes and 33 whole exomes were used to construct the first ever population specific major allele reference genome for the United Arab Emirates (UAE). When this was applied and compared to the archetype hg19 reference, assembly of local Emirati genomes was reduced by ∼19% (i.e., some 1 million fewer calls). In compiling the United Arab Emirates Reference Genome (UAERG), sets of annotated 23,038,090 short (novel: 1,790,171) and 137,713 structural (novel: 8,462) variants; their allele frequencies (AFs) and distribution across the genome were identified. Population-specific genetic characteristics including loss-of-function variants, admixture, and ancestral haplogroup distribution were identified and reported here. We also detect a strong correlation between FST and admixture components in the UAE. This baseline study was conceived to establish a high-quality reference genome and a genetic variations resource to enable the development of regional population specific initiatives and thus inform the application of population studies and precision medicine in the UAE.

scholarly journals Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review

2021 ◽  
Vol 2021 ◽  
pp. 1-14
Author(s):  
Meng Li ◽  
Xueyao Han ◽  
Linong Ji
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Secretion ◽  
Microvascular Complications ◽  
Neonatal Diabetes ◽  
Gene Encoding ◽  
Nervous Disease ◽  
Genetic Characteristics ◽  
Functional Studies ◽  
Abcc8 Gene ◽  
Genetic Features

Objectives. Diabetes mellitus (DM) is a major chronic metabolic disease in the world, and the prevalence has been increasing rapidly in recent years. The channel of KATP plays an important role in the regulation of insulin secretion. The variants in ABCC8 gene encoding the SUR1 subunit of KATP could cause a variety of phenotypes, including neonatal diabetes mellitus (ABCC8-NDM) and ABCC8-induced nonneonatal diabetes mellitus (ABCC8-NNDM). Since the features of ABCC8-NNDM have not been elucidated, this study is aimed at concluding the genetic features and clinical characteristics. Methods. We comprehensively reviewed the literature associated with ABCC8-NNDM in the following databases: MEDLINE, PubMed, and Web of Science to investigate the features of ABCC8-NNDM. Results. Based on a comprehensive literature search, we found that 87 probands with ABCC8-NNDM carried 71 ABCC8 genetic variant alleles, 24% of whom carried inactivating variants, 24% carried activating variants, and the remaining 52% carried activating or inactivating variants. Nine of these variants were confirmed to be activating or inactivating through functional studies, while four variants (p.R370S, p.E1506K, p.R1418H, and p.R1420H) were confirmed to be inactivating. The phenotypes of ABCC8-NNDM were variable and could also present with early hyperinsulinemia followed by reduced insulin secretion, progressing to diabetes later. They had a relatively high risk of microvascular complications and low prevalence of nervous disease, which is different from ABCC8-NDM. Conclusions. Genetic testing is essential for proper diagnosis and appropriate treatment for patients with ABCC8-NNDM. And further studies are required to determine the complex mechanism of the variants of ABCC8-NNDM.

The Clinical Spectrum of Anaphylaxis in North-West England

1996 ◽  
Vol 26 (12) ◽  
pp. 1364-1370 ◽  
Author(s):  
R. S. H. Pumphrey ◽  
S. J. Stanworth
Keyword(s):  
Clinical Spectrum ◽  
North West

Ras al Khaimah: further archaeological discoveries

Antiquity ◽  
1976 ◽  
Vol 50 (200) ◽  
pp. 216-222
Author(s):  
Beatrice De Cardi
Keyword(s):  
United Arab Emirates ◽  
The State ◽  
Focused Attention ◽  
North East ◽  
The North ◽  
History Of ◽  
The City

Ras a1 Khaimah is the most northerly of the seven states comprising the United Arab Emirates and its Ruler, H. H. Sheikh Saqr bin Mohammad al-Qasimi, is keenly interested in the history of the state and its people. Survey carried out there jointly with Dr D. B. Doe in 1968 had focused attention on the site of JuIfar which lies just north of the present town of Ras a1 Khaimah (de Cardi, 1971, 230-2). Julfar was in existence in Abbasid times and its importance as an entrep6t during the sixteenth and seventeenth centuries-the Portuguese Period-is reflected by the quantity and variety of imported wares to be found among the ruins of the city. Most of the sites discovered during the survey dated from that period but a group of cairns near Ghalilah and some long gabled graves in the Shimal area to the north-east of the date-groves behind Ras a1 Khaimah (map, FIG. I) clearly represented a more distant past.

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