{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T01:45:22Z","timestamp":1785375922756,"version":"3.55.0"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (\n                    <jats:italic>SLC2A10<\/jats:italic>\n                    ) gene encoding a glucose\/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout the body, accompanied by dysmorphisms and joint laxity. Vascular changes in different parts of the body lead to stenosis and\/or aneurysms requiring difficult surgical procedures. Here we present two new patients with ATS from two unrelated families. Patient 1 presented at 10 years of age with headache and typical physical appearance, delicate skeleton, large visible pulsation of the carotid arteries in the neck, and joint laxity. On computed tomography (CT) angiography she had severe tortuosity of the aortal branches and cerebral arteries, but no significant tortuosity of the pulmonary arteries. Two cousins of the girl carried the same homozygous c.254T&gt;C, p.(Leu85Pro) mutation in\n                    <jats:italic>SLC2A10<\/jats:italic>\n                    , however, they additionally had a severe involvement of the pulmonary vessels. Patient 2 was a 9-year-old girl diagnosed with severe tortuosity and stenosis of the pulmonary arteries and progressive myocardiopathy. Her physical appearance was very similar to Patient 1, except that she also had growth retardation. After long-term follow-up by cardiologists, she underwent cardiac surgery abroad, with an unfavorable outcome. Homozygosity for the c.685C&gt;T, p.(Arg229*) mutation in the\n                    <jats:italic>SLC2A10<\/jats:italic>\n                    gene was detected. Consanguinity was disclosed within both families. Our findings confirm the intrafamilial phenotype variability of ATS. A novel finding is the severe tortuosity of cerebral arteries causing migraine that has not been described before in a child with ATS.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2018-0009","type":"journal-article","created":{"date-parts":[[2018,10,31]],"date-time":"2018-10-31T05:31:24Z","timestamp":1540963884000},"page":"47-52","source":"Crossref","is-referenced-by-count":7,"title":["Clinical variability in two Macedonian families with Arterial tortuosity syndrome"],"prefix":"10.2478","volume":"21","author":[{"given":"M","family":"Kocova","sequence":"first","affiliation":[{"name":"University Pediatric Clinic , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Kacarska","sequence":"additional","affiliation":[{"name":"University Pediatric Clinic , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Kuzevska-Maneva","sequence":"additional","affiliation":[{"name":"University Pediatric Clinic , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Prijic","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Institute of Mother and Child , Belgrade , Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Lazareska","sequence":"additional","affiliation":[{"name":"Institute of Radiology , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Dordoni","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine , Division of Biology and Genetics, School of Medicine , University of Brescia , Brescia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Ritelli","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine , Division of Biology and Genetics, School of Medicine , University of Brescia , Brescia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Colombi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine , Division of Biology and Genetics, School of Medicine , University of Brescia , Brescia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,10,29]]},"reference":[{"key":"2026042718392283096_j_bjmg-2018-0009_ref_001_w2aab2b8b3b1b7b1ab2b1b1Aa","unstructured":"Callewaert B, De Paepe A, Coucke P. Arterial Tortuosity Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., Eds. Gene Reviews\u00ae [Internet] University of Washington, Seattle, WA, USA; 1993\u20132018 (initial posting November 13 2014) (https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK253404)."},{"key":"2026042718392283096_j_bjmg-2018-0009_ref_002_w2aab2b8b3b1b7b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006; 38(4): 452-457.","DOI":"10.1038\/ng1764"},{"key":"2026042718392283096_j_bjmg-2018-0009_ref_003_w2aab2b8b3b1b7b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, et al. Arterial tortuosity syndrome: Homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review BMC Med Genet 2014; 15: 122 (http:\/\/www.biomedcentral.com\/1471-2350\/15\/122).","DOI":"10.1186\/s12881-014-0122-5"},{"key":"2026042718392283096_j_bjmg-2018-0009_ref_004_w2aab2b8b3b1b7b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"N\u00e9meth CE, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, et al. Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates de-hydroascorbic acid transport. FEBS Lett. 2016; 590(11): 1630-1640.","DOI":"10.1002\/1873-3468.12204"},{"key":"2026042718392283096_j_bjmg-2018-0009_ref_005_w2aab2b8b3b1b7b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Zoppi N, Chiarelli N, Cinquina V, Ritelli M, Colombi M. GLUT10 deficiency leads to oxidative stress and non-canonical \u03b1v\u03b23 integrin-mediated TGF\u03b2 signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. Hum Mol Genet. 2015; 24(23): 6769-6787.","DOI":"10.1093\/hmg\/ddv382"},{"key":"2026042718392283096_j_bjmg-2018-0009_ref_006_w2aab2b8b3b1b7b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, et al. Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008; 29(1): 150-158.","DOI":"10.1002\/humu.20623"},{"key":"2026042718392283096_j_bjmg-2018-0009_ref_007_w2aab2b8b3b1b7b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, et al. Arterial tortuosity syndrome in two Italian paediatric patients. 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