Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.

Detalles Bibliográficos
Autores principales: Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752365/
https://www.ncbi.nlm.nih.gov/pubmed/33363762
http://dx.doi.org/10.1002/ccr3.3146
_version_ 1783625845782347776
author Maia, Nuno
Soares, Ana Rita
Fortuna, Ana Maria
Marques, Isabel
Gonçalves, Ana
Santos, Rosário
Melo Pires, Manuel
de Brouwer, Arjan P. M.
Jorge, Paula
author_facet Maia, Nuno
Soares, Ana Rita
Fortuna, Ana Maria
Marques, Isabel
Gonçalves, Ana
Santos, Rosário
Melo Pires, Manuel
de Brouwer, Arjan P. M.
Jorge, Paula
author_sort Maia, Nuno
collection PubMed
description In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.
format Online
Article
Text
id pubmed-7752365
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-77523652020-12-23 Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB Maia, Nuno Soares, Ana Rita Fortuna, Ana Maria Marques, Isabel Gonçalves, Ana Santos, Rosário Melo Pires, Manuel de Brouwer, Arjan P. M. Jorge, Paula Clin Case Rep Case Reports In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient. John Wiley and Sons Inc. 2020-07-30 /pmc/articles/PMC7752365/ /pubmed/33363762 http://dx.doi.org/10.1002/ccr3.3146 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Maia, Nuno
Soares, Ana Rita
Fortuna, Ana Maria
Marques, Isabel
Gonçalves, Ana
Santos, Rosário
Melo Pires, Manuel
de Brouwer, Arjan P. M.
Jorge, Paula
Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_full Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_fullStr Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_full_unstemmed Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_short Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_sort usher syndrome and nebulin‐associated myopathy in a single patient due to variants in myo7a and neb
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752365/
https://www.ncbi.nlm.nih.gov/pubmed/33363762
http://dx.doi.org/10.1002/ccr3.3146
work_keys_str_mv AT maianuno ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb
AT soaresanarita ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb
AT fortunaanamaria ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb
AT marquesisabel ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb
AT goncalvesana ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb
AT santosrosario ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb
AT melopiresmanuel ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb
AT debrouwerarjanpm ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb
AT jorgepaula ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsinmyo7aandneb

Ejemplares similares