1. ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
- Author
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Smail Hadj-Rabia, Marc Vasse, Christine Bodemer, Bert Callewaert, Sofie Symoens, Philippe Khau Van Kien, Aicha Salhi, Helen Cox, Aude Beyens, Najoua Kahloul, Elif Yilmaz Gulec, Ester Moreno-Artero, Gonul Ogur, Annie Harroche, Alper Gezdirici, and Ondokuz Mayıs Üniversitesi
- Subjects
0301 basic medicine ,Adult ,Male ,Pathology ,medicine.medical_specialty ,Glycosylation ,Dermatology ,Hemorrhagic Disorders ,Biochemistry ,Cataract ,Cutis Laxa ,Pathogenesis ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Consanguinity ,Young Adult ,0302 clinical medicine ,elastic fiber disarray ,von Willebrand disease type 2 ,Von Willebrand disease ,Medicine ,Humans ,Child ,pulmonary emphysema ,Molecular Biology ,Aged ,Skin ,Emphysema ,Adult patients ,business.industry ,Elastic fibre ,medicine.disease ,Elastic Tissue ,Phenotype ,Wrinkly skin ,Elastic fibres ,Proton-Translocating ATPases ,030104 developmental biology ,Codon, Nonsense ,Child, Preschool ,Face ,Female ,RNA Splice Sites ,Agenesis of Corpus Callosum ,business ,Protein Processing, Post-Translational ,management ,Cutis laxa - Abstract
Gezdirici, Alper/0000-0002-2432-9279; Gezdirici, Alper/0000-0002-2432-9279; vasse, marc/0000-0002-8784-7209; Beyens, Aude/0000-0003-0231-6861 WOS: 000493185700008 PubMed: 29952037 In ATP6V0A2-related cutis laxa, the skin phenotype varies from a wrinkly skin to prominent cutis laxa and typically associates with skeletal and neurological manifestations. The phenotype remains incompletely characterized, especially in adult patients. Glycosylation defects and reduced acidification of secretory vesicles contribute to the pathogenesis, but the consequences at the clinical level remain to be determined. Moreover, the morphology of the elastic fibres has not been studied in ATP6V0A2-related cutis laxa, nor its relation with potential clinical risks. We report on the extreme variability in ATP6V0A2-related cutis laxa in 10 novel patients, expand the phenotype with emphysema and von Willebrand disease and hypothesize on the pathogenesis that might link both with deficiency of glycosylation and with elastic fibre anomalies. Our data will affect clinical management of patients with ATP6V0A2-related cutis laxa. Special Research Fund of Ghent UniversityGhent University [01N04516]; Scientific Research Fund - Flanders
- Published
- 2018