A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.
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.
Zaidi
Syed H E
SH
Division of Cardiology, Department of Medicine, University Health Network & University of Toronto, Toronto, ON, Canada. Syed.Zaidi@uhnres.utoronto.ca
Meyer
Sascha
S
Peltekova
Vanya D
VD
Lindinger
Angelika
A
Teebi
Ahmad S
AS
Faiyaz-Ul-Haque
Muhammad
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D001158:Arteries / Q000002:abnormalities*; D018389:Codon, Nonsense; D003238:Connective Tissue / Q000002:abnormalities; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D051246:Glucose Transport Proteins, Facilitative / Q000172:deficiency / Q000235:genetics*; D006617:Hip Dislocation / Q000235:genetics*; D006801:Humans; D007223:Infant; D010375:Pedigree; D010641:Phenotype; D013270:Stomach / Q000002:abnormalities*; D013577:Syndrome
D018389:Codon, Nonsense; D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human