title: Dominant deafness-onychodystrophy syndrome caused by anATP6V1B2mutation.
abstract: Our report clarifies the role ofATP6V1B2in patients with deafness and onycho-osteodystrophy and confirms that a recurringATP6V1B2c.1516C>T [p.(Arg506*)], variant causes dominant deafness-onychodystrophy (DDOD) syndrome.
authors.affiliation: John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA.
authors.forename: Ibis
authors.initials: I
authors.lastname: Menendez
authors.affiliation: Institute for Research on Genetic and Metabolic Diseases INVEGEM Guatemala City Guatemala.
authors.forename: Claudia
authors.initials: C
authors.lastname: Carranza
authors.affiliation: Institute for Research on Genetic and Metabolic Diseases INVEGEM Guatemala City Guatemala.
authors.forename: Mariana
authors.initials: M
authors.lastname: Herrera
authors.affiliation: Institute for Research on Genetic and Metabolic Diseases INVEGEM Guatemala City Guatemala.
authors.forename: Nely
authors.initials: N
authors.lastname: Marroquin
authors.affiliation: John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Foster
authors.affiliation: John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA.
authors.forename: Filiz Basak
authors.initials: FB
authors.lastname: Cengiz
authors.affiliation: John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA.
authors.forename: Guney
authors.initials: G
authors.lastname: Bademci
authors.affiliation: 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.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
keywords: ATP6V1B2; Zimmermann–Laband syndrome; deafness–onychodystrophy–osteodystrophy–mental retardation–seizures; dominant deafness–onychodystrophy; whole‐exome sequencing