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

REFERENCES

1. 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® [Internet] University of Washington, Seattle, WA, USA; 1993–2018 (initial posting November 13 2014) (https://www.ncbi.nlm.nih.gov/ books/NBK253404.) 2. 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. 3. 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.bio medcentral.com/1471-2350/15/122.) 4. Németh 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. 5. Zoppi N, Chiarelli N, Cinquina V, Ritelli M, Colombi M. GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. Hum Mol Genet. 2015; 24(23): 6769-6787. 6. 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. 7. Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, et al. Arterial tortuosity syndrome in two Italian paediatric patients. Orphanet J Rare Dis. 2009; 4: 20. 8. Albuisson J, Moceri P, Flori E, Belli E, Gronier C, Jeunemaitre X. Clinical utility gene card for: Arterial tor-tuosity syndrome. Eur J Hum Genet. 2015; 23(10). doi: 10.1038/ejhg.2014.294. 9. Wessels MW, Catsman-Berrevoets CE, Mancini G, Breuning MH, Hoogeboom JJM, Stroink H, et al. Three new families with arterial tortuosity syndrome. Am J Med Genet. 2004; 131(2): 134-143. 10. Zaidi SHE, Meyer S, Peltekova I, Teebi AS, Faiyaz- Ul-Haque M. Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. Clin Genet. 2009; 75(6): 588-589. 11. Law-Ye B, Fargeot G, Leclercq D. Arterial spin labeling hypoperfusion in migraine aura. Headache. 2017; 57(6): 935-936. 12. Shayestagul NA, Christensen CE, Amin FM, Ashina S, Ashina M. Measurement of blood flow velocity in the middle cerebral artery during spontaneous migraine attacks: A systematic review. Headache. 2017; 57(6): 852-861. 13. Pelaez JM, Levine RL, Hafeez F, Dulli DA. Tortuosity of carotid and vertebral arteries: a magnetic resonance angiographic study. J Neuroimaging. 1998; 8(4): 235-239. 14. Wei F, Diedrich KT, Fullerton HJ, DeVeber G, Wintermark M, Hodge J, et al. Arterial tortuosity: An imaging biomarker of childhood stroke pathogenesis? Stroke. 2016; 47(5):1265-1270. 15. Cartwright MS, Hickling WH, Roach ES. Ischemic stroke in an adolescent with arterial tortuosity syndrome. Neurology. 2006; 67(2):360-361.



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