Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation

Ibis Menendez; Claudia Carranza; Mariana Herrera; Nely Marroquin; Joseph Foster 2nd; Filiz Basak Cengiz; Guney Bademci; Mustafa Tekin

doi:10.1002/ccr3.761

Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation

Clin Case Rep. 2017 Feb 8;5(4):376-379. doi: 10.1002/ccr3.761. eCollection 2017 Apr.

Authors

Ibis Menendez¹, Claudia Carranza², Mariana Herrera², Nely Marroquin², Joseph Foster 2nd¹, Filiz Basak Cengiz¹, Guney Bademci¹, Mustafa Tekin³

Affiliations

¹ John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA.
² Institute for Research on Genetic and Metabolic Diseases INVEGEM Guatemala City Guatemala.
³ John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA; Department of Human Genetics Dr. John T. Macdonald Foundation University of Miami Miller School of Medicine Miami Florida USA.

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.

Keywords: ATP6V1B2; Zimmermann–Laband syndrome; deafness–onychodystrophy–osteodystrophy–mental retardation–seizures; dominant deafness–onychodystrophy; whole‐exome sequencing.

Publication types

Case Reports

Abstract

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