ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Adult
Aged
Agenesis of Corpus Callosum
/ genetics
Cataract
/ genetics
Child
Child, Preschool
Codon, Nonsense
Consanguinity
Cutis Laxa
/ genetics
Elastic Tissue
/ pathology
Emphysema
/ genetics
Face
/ abnormalities
Female
Glycosylation
Hemorrhagic Disorders
/ genetics
Humans
Male
Phenotype
Protein Processing, Post-Translational
Proton-Translocating ATPases
/ genetics
RNA Splice Sites
/ genetics
Skin
/ pathology
Young Adult
ATPV60A2-related cutis laxa
elastic fiber disarray
management
pulmonary emphysema
von Willebrand disease type 2
Journal
Experimental dermatology
ISSN: 1600-0625
Titre abrégé: Exp Dermatol
Pays: Denmark
ID NLM: 9301549
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
accepted:
22
06
2018
pubmed:
29
6
2018
medline:
12
9
2020
entrez:
29
6
2018
Statut:
ppublish
Résumé
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.
Substances chimiques
ATP6V0A2 protein, human
0
Codon, Nonsense
0
RNA Splice Sites
0
Proton-Translocating ATPases
EC 3.6.3.14
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1142-1145Subventions
Organisme : Scientific Research Fund - Flanders
Pays : International
Organisme : Special Research Fund of Ghent University
ID : 01N04516
Pays : International
Informations de copyright
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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