Clinical variability in two Macedonian families with Arterial tortuosity syndrome
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (SLC2A10) gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout t...
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| Format: | Article |
| Language: | English |
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Sciendo
2018-10-01
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| Series: | Balkan Journal of Medical Genetics |
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| Online Access: | https://doi.org/10.2478/bjmg-2018-0009 |
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| author | Kocova M Kacarska R Kuzevska-Maneva K Prijic S Lazareska M Dordoni C Ritelli M Colombi M |
| author_facet | Kocova M Kacarska R Kuzevska-Maneva K Prijic S Lazareska M Dordoni C Ritelli M Colombi M |
| author_sort | Kocova M |
| collection | DOAJ |
| description | Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (SLC2A10) 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>C, p.(Leu85Pro) mutation in SLC2A10, 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>T, p.(Arg229*) mutation in the SLC2A10 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. |
| first_indexed | 2024-03-12T19:10:34Z |
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| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T19:10:34Z |
| publishDate | 2018-10-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-def00fc84bf14ec98daaea740231a4252023-08-02T05:57:08ZengSciendoBalkan Journal of Medical Genetics1311-01602018-10-01211475210.2478/bjmg-2018-0009bjmg-2018-0009Clinical variability in two Macedonian families with Arterial tortuosity syndromeKocova M0Kacarska R1Kuzevska-Maneva K2Prijic S3Lazareska M4Dordoni C5Ritelli M6Colombi M7University Pediatric Clinic, Skopje, Republic of MacedoniaUniversity Pediatric Clinic, Skopje, Republic of MacedoniaUniversity Pediatric Clinic, Skopje, Republic of MacedoniaDivision of Cardiology, Institute of Mother and Child, Belgrade, SerbiaInstitute of Radiology, Skopje, Republic of MacedoniaDepartment of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of Brescia, Brescia, ItalyDepartment of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of Brescia, Brescia, ItalyDepartment of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of Brescia, Brescia, ItalyArterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (SLC2A10) 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>C, p.(Leu85Pro) mutation in SLC2A10, 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>T, p.(Arg229*) mutation in the SLC2A10 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.https://doi.org/10.2478/bjmg-2018-0009arterial tortuosity syndrome (ats)cerebral arteryconsanguinityphenotype variabilityslc2a10 gene mutation |
| spellingShingle | Kocova M Kacarska R Kuzevska-Maneva K Prijic S Lazareska M Dordoni C Ritelli M Colombi M Clinical variability in two Macedonian families with Arterial tortuosity syndrome Balkan Journal of Medical Genetics arterial tortuosity syndrome (ats) cerebral artery consanguinity phenotype variability slc2a10 gene mutation |
| title | Clinical variability in two Macedonian families with Arterial tortuosity syndrome |
| title_full | Clinical variability in two Macedonian families with Arterial tortuosity syndrome |
| title_fullStr | Clinical variability in two Macedonian families with Arterial tortuosity syndrome |
| title_full_unstemmed | Clinical variability in two Macedonian families with Arterial tortuosity syndrome |
| title_short | Clinical variability in two Macedonian families with Arterial tortuosity syndrome |
| title_sort | clinical variability in two macedonian families with arterial tortuosity syndrome |
| topic | arterial tortuosity syndrome (ats) cerebral artery consanguinity phenotype variability slc2a10 gene mutation |
| url | https://doi.org/10.2478/bjmg-2018-0009 |
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