2. Academic Validation
  3. Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation

Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation

  • Clin Case Rep. 2017 Feb 8;5(4):376-379. doi: 10.1002/ccr3.761.
Ibis Menendez 1,  Claudia Carranza 2,  Mariana Herrera 2,  Nely Marroquin 2,  Joseph Foster 2nd 1,  Filiz Basak Cengiz 1,  Guney Bademci 1,  Mustafa Tekin 3
Affiliations

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.
PMID: 28396750 DOI: 10.1002/ccr3.761
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.

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