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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-9139512 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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