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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

M Kocova

M Kocova

University Pediatric ClinicSkopje, Republic of Macedonia
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Kocova, M
, 
R Kacarska

R Kacarska

University Pediatric ClinicSkopje, Republic of Macedonia
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Kacarska, R
, 
K Kuzevska-Maneva

K Kuzevska-Maneva

University Pediatric ClinicSkopje, Republic of Macedonia
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Kuzevska-Maneva, K
, 
S Prijic

S Prijic

Division of Cardiology, Institute of Mother and ChildBelgrade, Serbia
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Prijic, S
, 
M Lazareska

M Lazareska

Institute of RadiologySkopje, Republic of Macedonia
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Lazareska, M
, 
C Dordoni

C Dordoni

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of BresciaBrescia, Italy
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Dordoni, C
, 
M Ritelli

M Ritelli

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of BresciaBrescia, Italy
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Ritelli, M
 y 
M Colombi

M Colombi

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of BresciaBrescia, Italy
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Colombi, M
  
29 oct 2018
Clinical variability in two Macedonian families with Arterial tortuosity syndrome's Cover Image
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Categoría del artículo: Original Article
Publicado en línea: 29 oct 2018
Páginas: 47 - 52
DOI: https://doi.org/10.2478/bjmg-2018-0009
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© 2018 Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Color-coded volume rendering of the brain and neck CT-angiography of P1 with marked tortuosity of the cerebral arteries (black arrows) shown at different cross-sectional levels (A and B) and vertebral arteries (white arrows) shown in sagittal sections (C and D).
Color-coded volume rendering of the brain and neck CT-angiography of P1 with marked tortuosity of the cerebral arteries (black arrows) shown at different cross-sectional levels (A and B) and vertebral arteries (white arrows) shown in sagittal sections (C and D).

Figure 2

Computed tomography angiography of the aortic arch of P1 (A-D). Right subclavian artery (RSA) and right common carotid artery (RCCA) emerge from a right innominate artery, which is the first aortic arch branch (black arrows); left common carotid artery (LCCA) (marked with an asterisk) is the second and left subclavian artery (LSA) is the third aortic arch branch.
Computed tomography angiography of the aortic arch of P1 (A-D). Right subclavian artery (RSA) and right common carotid artery (RCCA) emerge from a right innominate artery, which is the first aortic arch branch (black arrows); left common carotid artery (LCCA) (marked with an asterisk) is the second and left subclavian artery (LSA) is the third aortic arch branch.

Figure 3

Molecular characterization. Sequencing of SLC2A10 exons and splice junctions revealed the following: P1 was homozygous for the c.254T>C, p.(Leu85Pro) missense mutation and P2 was homozygous for the recurrent c.685C>T, p.(Arg229*) nonsense mutation.
Molecular characterization. Sequencing of SLC2A10 exons and splice junctions revealed the following: P1 was homozygous for the c.254T>C, p.(Leu85Pro) missense mutation and P2 was homozygous for the recurrent c.685C>T, p.(Arg229*) nonsense mutation.

Figure 4

Family pedigree of P1. Children affected by ATS are shown in black, P1 is identified by an arrow.
Family pedigree of P1. Children affected by ATS are shown in black, P1 is identified by an arrow.
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Medicina, Ciencias médicas básicas, Ciencias médicas básicas, otros
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