Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali, Lihadh; Ali, Bassam R.

doi:10.1002/humu.21232

Cited by 68 publications

(54 citation statements)

References 97 publications

(89 reference statements)

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“…First-cousin marriages account for about 30% of those cases. 3 The mutation spectrum and birth prevalence of LSD among Emiratis has recently been reported, focusing on other IEMs in the same population [ Table 1]. 6,7 The main purpose of this study was to provide data that justify implementing prevention programmes, such as prenatal and premarital screening and counselling.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Al‐Shamsi¹,

Hertecant²,

Al-Hamad³

et al. 2014

SQUMJ

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Section: Discussionmentioning

confidence: 99%

“…Despite the ethnic diversity, inter-tribal marriages are much less common than intra-tribal ones. 3 In 2010, the UAE's population was estimated at 8,264,070; 87% of this population was expatriate. 4 In 2011, the total live birth in UAE was 83,950, of whom only 40% were Emiratis.…”

mentioning

confidence: 99%

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Al‐Shamsi¹,

Hertecant²,

Al-Hamad³

et al. 2014

SQUMJ

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“…This finding extends the spectrum of RAB23 mutations and highlights the important role of this gene as major cause of Carpenter syndrome worldwide. Finding disease causing mutations of recessive disorders is crucial for adopting effective prevention strategies, especially in highly consanguineous populations like the United Arab Emirates [Al-Gazali and Ali, 2010]. mutation led to a frameshift which would allow the translation of only 3 amino acids of exon 5 before encountering a stop codon.…”

Section: Discussionmentioning

confidence: 99%

A Novel Aberrant Splice Site Mutation in <b><i>RAB23</i></b> Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family

Ben-Salem

Begum²,

Ali³

et al. 2012

Mol Syndromol

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Carpenter syndrome is caused by mutations in the RAB23 gene that encodes a small GTPase of the Rab subfamily of proteins. Rab proteins are known to be involved in the regulation of cellular trafficking and signal transduction. Currently, only few mutations in RAB23 have been reported in patients with Carpenter syndrome. In this paper, we report the clinical features, molecular and functional analysis of 2 children from an Emirati consanguineous family with this syndrome. The affected children exhibit the typical features including craniosynostosis, typical facial appearance, polysyndactyly, and obesity. Molecular analysis of the RAB23 gene revealed a homozygous mutation affecting the first nucleotide of the acceptor splice site of exon 5 (c.482-1G>A). This mutation affects the authentic mRNA splicing and activates a cryptic acceptor site within exon 5. Thus, the erroneous splicing results in an eight nucleotide deletion, followed by a frameshift and premature termination codon at position 161 (p.V161fsX3). Due to the loss of the C-terminally prenylatable cysteine residue, the truncated protein will probably fail to associate with the target cellular membranes due to the absence of the necessary lipid modification. The p.V161fsX3 extends the spectrum of RAB23 mutations and points to the crucial role of prenylation in the pathogenesis of Carpenter syndrome within this family.

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“…In the United Kingdom, using proprietary software, the Diagnostic Mutation Database (DMuDb http://www.ngrl.org.uk/Manchester/dmudb.html) was formed to collect data directly from diagnostic laboratories. A Consortium of Arab Genetics Societies (CAGS) developed a database of disease diagnosed in Arab populations [4]. In France, the Universal Mutation Database (UMD http://www.umd.be) has served as a central store for genetic data produced in a network of French laboratories.…”

Section: National Databasesmentioning

confidence: 99%

Harmonizing the interpretation of genetic variants across the world: the Malaysian experience

et al. 2016

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BackgroundDatabases for gene variants are very useful for sharing genetic data and to facilitate the understanding of the genetic basis of diseases. This report summarises the issues surrounding the development of the Malaysian Human Variome Project Country Node. The focus is on human germline variants. Somatic variants, mitochondrial variants and other types of genetic variation have corresponding databases which are not covered here, as they have specific issues that do not necessarily apply to germline variations.ResultsThe ethical, legal, social issues, intellectual property, ownership of the data, information technology implementation, and efforts to improve the standards and systems used in data sharing are discussed.ConclusionAn overarching framework such as provided by the Human Variome Project to co-ordinate activities is invaluable. Country Nodes, such as MyHVP, enable human gene variation associated with human diseases to be collected, stored and shared by all disciplines (clinicians, molecular biologists, pathologists, bioinformaticians) for a consistent interpretation of genetic variants locally and across the world.

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Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Cited by 68 publications

References 97 publications

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates

A Novel Aberrant Splice Site Mutation in <b><i>RAB23</i></b> Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family

Harmonizing the interpretation of genetic variants across the world: the Malaysian experience

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