Clinical genetics and genomic medicine in Qatar

Al‐Dewik, Nader; Al‐Mureikhi, Mariam; Shahbeck, Noora; Ali, Rehab; Al‐Mesaifri, Fatma; Mahmoud, Laila; Othman, Amna; Al-Mulla, Mariam; Sulaiman, Reem Al; Musa, Sara; Abdoh, Ghassan; El‐Akouri, Karen; Solomon, Benjamin D.; Ben‐Omran, Tawfeg

doi:10.1002/mgg3.474

Cited by 17 publications

(15 citation statements)

References 37 publications

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“…We also referred the father and sister to the adult rheumatology department for further evaluation, as the clinical phenotype could have been either subtle or overlooked. Coexisting genetic disorders have been reported in Arabic families [12,13], and WES has the advantage of detecting more than one disease, whether it has overlapping clinical features or independent clinical manifestations. WES has a high diagnostic yield in the setting of Mendelian disorders and is particularly helpful diagnostically in the highly consanguineous Middle Eastern population including the United Arab Emirates [13,14].…”

Section: Discussionmentioning

confidence: 99%

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis

Fathalla¹,

Elgabaly

Tayoun

2020

Pediatr Rheumatol

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Background A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic variant in the WISP3 gene and presenting with progressive pseudorheumatoid dysplasia (PPRD), a rare noninflammatory arthropathy mimicking polyarticular JIA. Case presentation An Arabic family with PPRD was diagnosed using whole-exome sequencing (WES), revealing a novel c.707delG pathogenic variant in the WISP3 gene. The proband was referred at 10 years old for possible diagnosis of polyarticular JIA based on progressive arthropathy for three years. He was already on naproxen and methotrexate. We suspected familial noninflammatory arthropathy based on clinical manifestations, imaging findings, and family history. WES confirmed the molecular diagnosis of PPRD in the proband and one sister with a similar phenotype. An unexpected p.A744S MEFV pathogenic variant was detected in the proband, parents, and affected sister. Conclusions Early identification and diagnosis of familial noninflammatory arthropathies such as PPRD can prevent unnecessary use of immunosuppressive medications. Diagnosis requires high suspicion in children with early onset arthritic changes, absence of elevated inflammatory markers, specific imaging findings, and positive family history suggestive of an autosomal recessive disorder. We highlight the advantages of WES over single-gene analysis in such cases.

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Section: Discussionmentioning

confidence: 99%

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis

Fathalla¹,

Elgabaly

Tayoun

2020

Pediatr Rheumatol

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“…The QF is the main scientific body in Qatar that was founded in 1995 to serve the people of Qatar by supporting and operating programs in three core mission areas: education, science and research, and community development. QF Research, Development, and Innovation (QF RDI) is a division of QF that is responsible for supporting and funding different kinds of research activities through the following entities: Qatar Science and Technology Park, Qatar Biobank for Medical Research, Qatar Genome Programme, Qatar Biomedical Research Institute, Sidra Medicine, Doha International Family Institute, and World Innovation Summit for Health [12,13].…”

Section: Qatar Foundation (Qf)mentioning

confidence: 99%

“…It was founded in 1999 for the welfare of people with intellectual disabilities, mainly autism spectrum disorders. The center provides both clinical genetic and molecular diagnostic services in addition to conducting both independent and collaborative research projects [12,13].…”

Section: Shafallah Centre For Children With Special Needsmentioning

confidence: 99%

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Genetics of stroke in Qatar: Current situation and future opportunities

Khan¹

2022

Eastern J Med Sci

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Recent studies have shown that genetic factors may play an important role in the pathogenesis of stroke, as known modifiable and non-modifiable risk factors may account for only 50% of the risk of stroke. Evidence for a genetic basis can be elucidated from twin studies, family history studies, and animal models. Qatar is currently leading the stroke initiative in the Gulf region with a view toward joining the genomic revolution. In collaboration with a team of scientists from Royal Holloway College, University of London, and Imperial College London, we took the initial step in this field by establishing the first biorepository of deoxyribonucleic acid in stroke in the Middle East. In this review, we describe our current situation in the field of stroke genetics with an exploration of future opportunities.

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“…The introduction of the National Premarital Genetic Screening Program for a number of diseases, including CF, represents one notable milestone that started in 2009. Other diseases screened based on high carrier frequency include: thalassemia, sickle cell disease, classical homocystinuria and spinal muscular dystrophy [49]. Despite the importance of such screening programs, a recent study showed low knowledge and attitudes towards these programs in the Qatari population.…”

Section: Future Directions and Recommendationsmentioning

confidence: 99%

Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions

Hammoudeh

Gadelhak

AbdulWahab

et al. 2019

Multidiscip Respir Med

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Cystic fibrosis (CF) is a genetic disease caused by a defect of CF transmembrane conductance regulator (CFTR) gene. CF affects multiple systems, predominantly with respiratory involvement. In Qatar, researchers have been exploring various aspects of the disease for almost 20 years. PubMed and Google Scholar were reviewed for articles related to CF in Qatar. The first publication appeared in the year 2000. Since then, several studies have been conducted on CF patients in Qatar considering a variety of topics. The presence of the CFTR I1234V mutation in a certain Arab tribe stands out as a distinguishing characteristic of CF patients in Qatar when compared to the larger Arab region or even worldwide. We aim here to summarize the existing CF research conducted in Qatar over the years as well as to introduce topics for future research.

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Clinical genetics and genomic medicine in Qatar

Abstract: Clinical genetics and genomic medicine in Qatar.

Cited by 17 publications

References 37 publications

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis

Genetics of stroke in Qatar: Current situation and future opportunities

Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions

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