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Menke–Hennekam Syndrome: A Literature Review and a New Case Report

Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in CREBBP (CREB-binding protein gene). The CREB-binding protein (CREBBP) and EP300 genes are two commonly expressed genes whose products possess acetyltransferase activity...

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Autores principales: Sima, Aurora, Smădeanu, Roxana Elena, Simionescu, Anca Angela, Nedelea, Florina, Vlad, Andreea-Maria, Becheanu, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139512/
https://www.ncbi.nlm.nih.gov/pubmed/35626936
http://dx.doi.org/10.3390/children9050759
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author Sima, Aurora
Smădeanu, Roxana Elena
Simionescu, Anca Angela
Nedelea, Florina
Vlad, Andreea-Maria
Becheanu, Cristina
author_facet Sima, Aurora
Smădeanu, Roxana Elena
Simionescu, Anca Angela
Nedelea, Florina
Vlad, Andreea-Maria
Becheanu, Cristina
author_sort Sima, Aurora
collection PubMed
description Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in CREBBP (CREB-binding protein gene). The CREB-binding protein (CREBBP) and EP300 genes are two commonly expressed genes whose products possess acetyltransferase activity for histones and various other proteins. Mutations that affect these two genes are known to cause Rubinstein–Taybi syndrome (RTS); however, with the application of whole exome sequencing (WES) there were reports of variants that affect specific regions of exon 30 or 31 of these two genes but without the specific phenotype of RTS. Material and Methods: A review of the available literature was conducted, aimed at underscoring the difficulties in diagnosing MHS based on phenotype particularities. Results: Five applicable studies were identified by searching PubMed, Web of Science, and Scopus databases for publications up to November 2021 using the key terms “Menke–Hennekam syndrome” and “CREBBP”. Conclusions: In this paper, we present a new case and highlight the importance of exome sequencing to identify different mutations of exons 30 and 31 of the CREBBP gene involved in MHS, and we make formal recommendations based on our literature review.
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spelling pubmed-91395122022-05-28 Menke–Hennekam Syndrome: A Literature Review and a New Case Report Sima, Aurora Smădeanu, Roxana Elena Simionescu, Anca Angela Nedelea, Florina Vlad, Andreea-Maria Becheanu, Cristina Children (Basel) Case Report Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in CREBBP (CREB-binding protein gene). The CREB-binding protein (CREBBP) and EP300 genes are two commonly expressed genes whose products possess acetyltransferase activity for histones and various other proteins. Mutations that affect these two genes are known to cause Rubinstein–Taybi syndrome (RTS); however, with the application of whole exome sequencing (WES) there were reports of variants that affect specific regions of exon 30 or 31 of these two genes but without the specific phenotype of RTS. Material and Methods: A review of the available literature was conducted, aimed at underscoring the difficulties in diagnosing MHS based on phenotype particularities. Results: Five applicable studies were identified by searching PubMed, Web of Science, and Scopus databases for publications up to November 2021 using the key terms “Menke–Hennekam syndrome” and “CREBBP”. Conclusions: In this paper, we present a new case and highlight the importance of exome sequencing to identify different mutations of exons 30 and 31 of the CREBBP gene involved in MHS, and we make formal recommendations based on our literature review. MDPI 2022-05-22 /pmc/articles/PMC9139512/ /pubmed/35626936 http://dx.doi.org/10.3390/children9050759 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Sima, Aurora
Smădeanu, Roxana Elena
Simionescu, Anca Angela
Nedelea, Florina
Vlad, Andreea-Maria
Becheanu, Cristina
Menke–Hennekam Syndrome: A Literature Review and a New Case Report
title Menke–Hennekam Syndrome: A Literature Review and a New Case Report
title_full Menke–Hennekam Syndrome: A Literature Review and a New Case Report
title_fullStr Menke–Hennekam Syndrome: A Literature Review and a New Case Report
title_full_unstemmed Menke–Hennekam Syndrome: A Literature Review and a New Case Report
title_short Menke–Hennekam Syndrome: A Literature Review and a New Case Report
title_sort menke–hennekam syndrome: a literature review and a new case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139512/
https://www.ncbi.nlm.nih.gov/pubmed/35626936
http://dx.doi.org/10.3390/children9050759
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