Advances in laboratory medicine · 2025
A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome.
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Gutiérrez Romero Estrella, Padilla Apuntate Nuria, Izquierdo Álvarez Silvia
Аннотация
OBJECTIVES: To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may be caused by pathogenic variants (PVs) in heterozygosis in the COL3A1 gene.
CASE PRESENTATION: We present the case of a man who suffered a cerebrovascular accident. Following investigations, a de novo probably-pathogenic variant was identified in the COL3A1 gene, which directed initial suspicion from Marfan syndrome to a final diagnosis of VEDS.
CONCLUSIONS: The variant detected in the COL3A1 gene may support causality in the clinical context of this patient and contribute to improving therapeutic management in similar cases.
CASE PRESENTATION: We present the case of a man who suffered a cerebrovascular accident. Following investigations, a de novo probably-pathogenic variant was identified in the COL3A1 gene, which directed initial suspicion from Marfan syndrome to a final diagnosis of VEDS.
CONCLUSIONS: The variant detected in the COL3A1 gene may support causality in the clinical context of this patient and contribute to improving therapeutic management in similar cases.