Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation. Issue 4 (8th February 2017)

• Record Type: Journal Article
• Authors: Menendez, Ibis; Carranza, Claudia; Herrera, Mariana; Marroquin, Nely; Foster, Joseph; Cengiz, Filiz Basak; Bademci, Guney; Tekin, Mustafa
• Is Part Of: Clinical case reports. Volume 5:Issue 4(2017)
• Page Start: 376
• Page End: 379
• Publication Date: 2017-02-08
• Subjects: ATP6V1B2 -- deafness–onychodystrophy–osteodystrophy–mental retardation–seizures -- dominant deafness–onychodystrophy -- whole‐exome sequencing -- Zimmermann–Laband syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.761
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho‐osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness–onychodystrophy (DDOD) syndrome. Abstract : Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho‐osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness–onychodystrophy (DDOD) syndrome.