Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

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.

Detalles Bibliográficos
Autores principales: Menendez, Ibis, Carranza, Claudia, Herrera, Mariana, Marroquin, Nely, Foster, Joseph, Cengiz, Filiz Basak, Bademci, Guney, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378843/
https://www.ncbi.nlm.nih.gov/pubmed/28396750
http://dx.doi.org/10.1002/ccr3.761
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author Menendez, Ibis
Carranza, Claudia
Herrera, Mariana
Marroquin, Nely
Foster, Joseph
Cengiz, Filiz Basak
Bademci, Guney
Tekin, Mustafa
author_facet Menendez, Ibis
Carranza, Claudia
Herrera, Mariana
Marroquin, Nely
Foster, Joseph
Cengiz, Filiz Basak
Bademci, Guney
Tekin, Mustafa
author_sort Menendez, Ibis
collection PubMed
description 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.
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spelling pubmed-53788432017-04-10 Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation Menendez, Ibis Carranza, Claudia Herrera, Mariana Marroquin, Nely Foster, Joseph Cengiz, Filiz Basak Bademci, Guney Tekin, Mustafa Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-02-08 /pmc/articles/PMC5378843/ /pubmed/28396750 http://dx.doi.org/10.1002/ccr3.761 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Menendez, Ibis
Carranza, Claudia
Herrera, Mariana
Marroquin, Nely
Foster, Joseph
Cengiz, Filiz Basak
Bademci, Guney
Tekin, Mustafa
Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
title Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
title_full Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
title_fullStr Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
title_full_unstemmed Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
title_short Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
title_sort dominant deafness–onychodystrophy syndrome caused by an atp6v1b2 mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378843/
https://www.ncbi.nlm.nih.gov/pubmed/28396750
http://dx.doi.org/10.1002/ccr3.761
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