A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin
| Autor: | Ahmad S. Teebi, Angelika Lindinger, Vanya D. Peltekova, Syed H.E. Zaidi, Sascha Meyer, Muhammad Faiyaz-Ul-Haque |
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| Rok vydání: | 2008 |
| Předmět: |
Joint hypermobility
Thorax Arterial tortuosity syndrome Pathology medicine.medical_specialty DNA Mutational Analysis Glucose Transport Proteins Facilitative Connective tissue Genes Recessive medicine.disease_cause Tortuosity medicine Hip Dislocation Humans Abnormalities Multiple Gene Mutation business.industry Stomach Infant Arteries Syndrome medicine.disease Pedigree Phenotype medicine.anatomical_structure Codon Nonsense Connective Tissue Pediatrics Perinatology and Child Health Female business Artery |
| Zdroj: | European Journal of Pediatrics. 168:867-870 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s00431-008-0839-2 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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