Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum

Rubinstein–Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand e...

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Autores principales: Sellars, Elizabeth A., Sullivan, Bonnie R., Schaefer, G. Bradley
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929809/
https://www.ncbi.nlm.nih.gov/pubmed/27386132
http://dx.doi.org/10.1002/ccr3.598
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author Sellars, Elizabeth A.
Sullivan, Bonnie R.
Schaefer, G. Bradley
author_facet Sellars, Elizabeth A.
Sullivan, Bonnie R.
Schaefer, G. Bradley
author_sort Sellars, Elizabeth A.
collection PubMed
description Rubinstein–Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.
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spelling pubmed-49298092016-07-06 Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum Sellars, Elizabeth A. Sullivan, Bonnie R. Schaefer, G. Bradley Clin Case Rep Case Reports Rubinstein–Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype. John Wiley and Sons Inc. 2016-06-10 /pmc/articles/PMC4929809/ /pubmed/27386132 http://dx.doi.org/10.1002/ccr3.598 Text en © 2016 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‐NonCommercial‐NoDerivs (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
Sellars, Elizabeth A.
Sullivan, Bonnie R.
Schaefer, G. Bradley
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
title Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
title_full Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
title_fullStr Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
title_full_unstemmed Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
title_short Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
title_sort whole exome sequencing reveals ep300 mutation in mildly affected female: expansion of the spectrum
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929809/
https://www.ncbi.nlm.nih.gov/pubmed/27386132
http://dx.doi.org/10.1002/ccr3.598
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AT schaefergbradley wholeexomesequencingrevealsep300mutationinmildlyaffectedfemaleexpansionofthespectrum

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