Balkan Journal of Medical Genetics

CLINICAL VARIABILITY IN TWO MACEDONIAN FAMILIES WITH ARTERIAL TORTUOSITY SYNDROME
Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M
*Corresponding Author: Professor Dr. Mirjana Kocova, University Pediatric Clinic, Str Majka Tereza 17, 1000 Skopje, Republic of Macedonia. Tel: +389-70-242-694. Fax: +389-2-311-1713. E-mail: mirjanakocova@ yahoo.com
page: 47

INTRODUCTION

Arterial tortuosity syndrome (ATS, MIM 208050) is a rare autosomal recessive connective tissue disorder chiefly characterized by elongation and tortuosity of the large and medium sized arteries and anomalies of the vascular elastic fibers [1,2]. Alterations of the vascular morphology and structure lead to a propensity for aneurysm formation and vascular dissections, focal and/or widespread stenosis of the aorta and/or pulmonary arteries, and vasomotor instability. The first few years of life seem to be the most critical for potentially life-threatening events, particularly acute respiratory insufficiency and other complications related to pulmonary artery stenosis (PAS) [3]. Arterial tortuosity syndrome shares features with other connective tissue disorders, i.e., Marfan syndrome, Loeys-Dietz syndromes, Cutis laxa and Ehlers-Danlos syndromes, namely soft/ velvety/hyperextensible skin, facial dysmorphisms (i.e., elongated face, hypertelorism, beaked nose, high palate and/or bifid uvula, and micro/retrognathia), abdominal hernias, joint hypermobility, congenital contractures, scoliosis and other skeletal anomalies. Genetic analysis can help in delineating these entities [3]. Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene encoding the glucose/dehydroascorbic acid (DAA) transporter 10 (GLUT10) [2,4]. The exact role of GLUT10 as a DAA transporter in the pathogenesis of ATS remains to be clarified, but some evidence suggests that the shortage of ascorbic acid in the compartments of the secretory pathway can affect the production of extracellular matrix proteins both at epigenetic and posttranslational levels [4,5]. Here we present two unrelated patients with molecularly confirmed ATS, expanding the phenotypic spectrum and the variability of this rare disorder. Mutation Screening. Genomic DNA was extracted from peripheral blood leukocytes using standard procedures; the exons and intronflanking regions of the SLC2A10 gene were amplified by polymerase chain reaction (PCR) and directly sequenced using an ABI PRISM® 3130xl genetic analyzer (Life Technologies, Carlsbad, CA, USA), as previously reported by Ritelli et al. [3]. The nucleotide and protein accession numbers correspond to the SLC2A10 (NM_030777.3; NP_110404.1) reference sequence. Mutations were annotated according to the Human Genome Variation Society (HGVS) nomenclature (www. hgvs. org/mutnomen).

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