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Clinical variability in two Macedonian families with Arterial tortuosity syndrome Cover

Clinical variability in two Macedonian families with Arterial tortuosity syndrome

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 1 (June 2018)
By: M Kocova,  R Kacarska,  K Kuzevska-Maneva,  S Prijic,  M Lazareska,  C Dordoni,  M Ritelli and  M Colombi  
Open Access
|Oct 2018

Figures & Tables

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.
DOI: https://doi.org/10.2478/bjmg-2018-0009 | Journal eISSN: 2199-5761
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Language: English
Page range: 47 - 52
Published on: Oct 29, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Arterial tortuosity syndrome (ATS),
Cerebral artery,
Consanguinity,
Phenotype variability,
gene mutation
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2018 M Kocova, R Kacarska, K Kuzevska-Maneva, S Prijic, M Lazareska, C Dordoni, M Ritelli, M Colombi, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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