Article
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
American journal of human genetics - 2 Feb 2017
Van Damme Tim, Gardeitchik Thatjana, Mohamed Miski, Guerrero-Castillo Sergio, Freisinger Peter, Guillemyn Brecht, Kariminejad Ariana, Dalloyaux Daisy, van Kraaij Sanne, Lefeber Dirk J, Syx Delfien, Steyaert Wouter, De Rycke Riet, Hoischen Alexander, Kamsteeg Erik-Jan, Wong Sunnie Y, van Scherpenzeel Monique, Jamali Payman, Brandt Ulrich, Nijtmans Leo, Korenke G Christoph, Chung Brian H Y, Mak Christopher C Y, Hausser Ingrid, Kornak Uwe, Fischer-Zirnsak Björn, Strom Tim M, Meitinger Thomas, Alanay Yasemin, Utine Gulen E, Leung Peter K C, Ghaderi-Sohi Siavash, Coucke Paul, Symoens Sofie, De Paepe Anne, Thiel Christian, Haack Tobias B, Malfait Fransiska, Morava Eva, Callewaert Bert, Wevers Ron A
Abstract excerpt
Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode the...
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