Identification of a p.Ser81Arg encoding mutation in <i>SLC2A10</i> gene of arterial tortuosity syndrome patients from 10 Qatari families

Faiyaz-Ul-Haque, Muhammad; Zaidi, She; Wahab, Atqah Abdul; Eltohami, Ali Ahmed; AlMureikhi,; Al-Thani, Ghalia M.H; Peltekova, VD; Lc, Tsui; As, Teebi

doi:10.1111/j.1399-0004.2008.01049.x

Cited by 21 publications

(30 citation statements)

References 20 publications

(70 reference statements)

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“…More patients have later been identified from the same tribe [53] . Molecular studies of 15 affected individuals from 10 families showed a founder mutation in the SLC2A10 gene (p.Ser81Arg) [55] .…”

Section: Arterial Tortuosity Syndromementioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society. Consanguineous marriage is favored and respected in most if not all Arab communities, and intrafamilial unions currently account for 20-50% of all marriages. First-cousin unions are especially popular and constitute almost one quarter of all marriages in many Arab countries. Consequently, autosomal recessive (AR) dysmorphic syndromes constitute a considerable proportion of all birth defects among Arabs. Arab geneticists, with their persistent commitment to advancing research, have contributed to the description of a number of rare and new AR syndromes with the identification of novel genes. The collaboration with research teams in high-income countries resulted in a plethora of data on pathogenic variants and their function in causing dysmorphic syndromes. There could still be a considerable number of rare dysmorphic syndromes that prevail among Arabs which are not hitherto described and whose underlying molecular pathologies are not yet defined. Arab countries should thus strive to deploy DNA diagnostics and to build research capability around local priorities. Furthermore, a characterization of the prevailing genetic disorders in each geographic location, together with their mutations, is needed to plan for appropriate screening and testing protocols. An overview of consanguinity in Arab countries and examples of dysmorphology syndromes associated with consanguinity with their available molecular bases will be discussed.

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Section: Arterial Tortuosity Syndromementioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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“…Molecular causes for Beasly-Cohen type (OMIM 608763), EDS-type V (OMIM 305200), and EDS type-unspecified (OMIM 130090) are unknown. Homozygosity mapping of the ATS locus to chromosome 20q13 [8,13] with subsequent identification of mutations in the SLC2A10 gene at this locus [7,9,12,13] confirmed that ATS is an entirely distinct entity from EDS. The exact mechanism by which mutations in the SLC2A10 gene produce ATS is not known.…”

mentioning

confidence: 61%

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin

et al. 2008

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Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries in addition to hyperextensible skin, joint laxity, and other connective tissue features. This syndrome is caused by mutations in the SLC2A10 gene. In this article we describe an ATS girl of Kurdish origin who, in addition to arterial tortuosity and connective tissue features, displays stomach displacement within the thorax and bilateral hip dislocation. Clinical details of this patient have been reported previously. Sequencing of the SLC2A10 gene identified a novel homozygous non-sense c.756C>A mutation in this patient's DNA. This mutation in the SLC2A10 gene replaces a cysteine encoding codon with a stop signal. This is believed to cause a premature truncation of GLUT10 protein in this patient. We conclude that patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry mutations in the SLC2A10 gene.

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“…The frequency does not seem to vary between different ethnical backgrounds, although in some populations a high level of consanguinity possibly favours the occurrence of new cases). 2 …”

Section: Analytical Validationmentioning

confidence: 99%

“…(Please describe) In populations where consanguineous marriages occur frequently, heterozygous carrier identification might be useful in a patient's relative, if prenatal diagnosis for the offspring is considered. 2 …”

Section: Commentmentioning

confidence: 99%