Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients

Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic fa...

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Autores principales: Gosso, Maria Florencia, Rohr, Cristian, Brun, Bianca, Mejico, Guadalupe, Madeira, Fernanda, Fay, Fabian, Klurfan, Melina, Vazquez, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070557/
https://www.ncbi.nlm.nih.gov/pubmed/30083364
http://dx.doi.org/10.1038/s41439-018-0021-y
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author Gosso, Maria Florencia
Rohr, Cristian
Brun, Bianca
Mejico, Guadalupe
Madeira, Fernanda
Fay, Fabian
Klurfan, Melina
Vazquez, Martin
author_facet Gosso, Maria Florencia
Rohr, Cristian
Brun, Bianca
Mejico, Guadalupe
Madeira, Fernanda
Fay, Fabian
Klurfan, Melina
Vazquez, Martin
author_sort Gosso, Maria Florencia
collection PubMed
description Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat–Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2).
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spelling pubmed-60705572018-08-06 Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients Gosso, Maria Florencia Rohr, Cristian Brun, Bianca Mejico, Guadalupe Madeira, Fernanda Fay, Fabian Klurfan, Melina Vazquez, Martin Hum Genome Var Data Report Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat–Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2). Nature Publishing Group UK 2018-08-01 /pmc/articles/PMC6070557/ /pubmed/30083364 http://dx.doi.org/10.1038/s41439-018-0021-y Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Gosso, Maria Florencia
Rohr, Cristian
Brun, Bianca
Mejico, Guadalupe
Madeira, Fernanda
Fay, Fabian
Klurfan, Melina
Vazquez, Martin
Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_full Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_fullStr Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_full_unstemmed Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_short Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_sort exome-first approach identified novel indels and gene deletions in mowat-wilson syndrome patients
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070557/
https://www.ncbi.nlm.nih.gov/pubmed/30083364
http://dx.doi.org/10.1038/s41439-018-0021-y
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