Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings

Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X‐linked myopathy involving a new VMA21 gene mut...

Descripción completa

Detalles Bibliográficos
Autores principales: Konialis, Christopher, Assimakopoulos, Efstratios, Hagnefelt, Birgitta, Karapanou, Sophia, Sotiriadis, Alexandros, Pangalos, Constantinos
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/PMC5331204/
https://www.ncbi.nlm.nih.gov/pubmed/28265396
http://dx.doi.org/10.1002/ccr3.822
_version_ 1782511326968414208
author Konialis, Christopher
Assimakopoulos, Efstratios
Hagnefelt, Birgitta
Karapanou, Sophia
Sotiriadis, Alexandros
Pangalos, Constantinos
author_facet Konialis, Christopher
Assimakopoulos, Efstratios
Hagnefelt, Birgitta
Karapanou, Sophia
Sotiriadis, Alexandros
Pangalos, Constantinos
author_sort Konialis, Christopher
collection PubMed
description Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X‐linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing‐based approach.
format Online
Article
Text
id pubmed-5331204
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-53312042017-03-06 Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings Konialis, Christopher Assimakopoulos, Efstratios Hagnefelt, Birgitta Karapanou, Sophia Sotiriadis, Alexandros Pangalos, Constantinos Clin Case Rep Case Reports Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X‐linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing‐based approach. John Wiley and Sons Inc. 2017-02-04 /pmc/articles/PMC5331204/ /pubmed/28265396 http://dx.doi.org/10.1002/ccr3.822 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
Konialis, Christopher
Assimakopoulos, Efstratios
Hagnefelt, Birgitta
Karapanou, Sophia
Sotiriadis, Alexandros
Pangalos, Constantinos
Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
title Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
title_full Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
title_fullStr Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
title_full_unstemmed Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
title_short Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
title_sort prenatal diagnosis of x‐linked myopathy associated with a vma21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331204/
https://www.ncbi.nlm.nih.gov/pubmed/28265396
http://dx.doi.org/10.1002/ccr3.822
work_keys_str_mv AT konialischristopher prenataldiagnosisofxlinkedmyopathyassociatedwithavma21genemutationaffordedthroughanoveltargetedexomesequencingstrategyappliedinfetuseswithabnormalultrasoundfindings
AT assimakopoulosefstratios prenataldiagnosisofxlinkedmyopathyassociatedwithavma21genemutationaffordedthroughanoveltargetedexomesequencingstrategyappliedinfetuseswithabnormalultrasoundfindings
AT hagnefeltbirgitta prenataldiagnosisofxlinkedmyopathyassociatedwithavma21genemutationaffordedthroughanoveltargetedexomesequencingstrategyappliedinfetuseswithabnormalultrasoundfindings
AT karapanousophia prenataldiagnosisofxlinkedmyopathyassociatedwithavma21genemutationaffordedthroughanoveltargetedexomesequencingstrategyappliedinfetuseswithabnormalultrasoundfindings
AT sotiriadisalexandros prenataldiagnosisofxlinkedmyopathyassociatedwithavma21genemutationaffordedthroughanoveltargetedexomesequencingstrategyappliedinfetuseswithabnormalultrasoundfindings
AT pangalosconstantinos prenataldiagnosisofxlinkedmyopathyassociatedwithavma21genemutationaffordedthroughanoveltargetedexomesequencingstrategyappliedinfetuseswithabnormalultrasoundfindings

Ejemplares similares