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 <i>CREBBP</i> (CREB-binding protein gene). The CREB-binding protein (<i>CREBBP)</i> and <i>EP300</i> genes are two commonly expresse...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-05-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/9/5/759 |
| _version_ | 1797500790835773440 |
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| author | Aurora Sima Roxana Elena Smădeanu Anca Angela Simionescu Florina Nedelea Andreea-Maria Vlad Cristina Becheanu |
| author_facet | Aurora Sima Roxana Elena Smădeanu Anca Angela Simionescu Florina Nedelea Andreea-Maria Vlad Cristina Becheanu |
| author_sort | Aurora Sima |
| collection | DOAJ |
| description | Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in <i>CREBBP</i> (CREB-binding protein gene). The CREB-binding protein (<i>CREBBP)</i> and <i>EP300</i> 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 “<i>CREBBP</i>”. 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 <i>CREBBP</i> gene involved in MHS, and we make formal recommendations based on our literature review. |
| first_indexed | 2024-03-10T03:08:54Z |
| format | Article |
| id | doaj.art-a27e7c4625e94531a4c73960ac020453 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T03:08:54Z |
| publishDate | 2022-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-a27e7c4625e94531a4c73960ac0204532023-11-23T10:31:57ZengMDPI AGChildren2227-90672022-05-019575910.3390/children9050759Menke–Hennekam Syndrome: A Literature Review and a New Case ReportAurora Sima0Roxana Elena Smădeanu1Anca Angela Simionescu2Florina Nedelea3Andreea-Maria Vlad4Cristina Becheanu5Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, “Grigore Alexandrescu” Emergency Hospital for Children, 011743 Bucharest, RomaniaDepartment of Pediatrics, Carol Davila University of Medicine and Pharmacy, “Grigore Alexandrescu” Emergency Hospital for Children, 011743 Bucharest, RomaniaDepartment of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Filantropia Clinical Hospital, 011132 Bucharest, RomaniaDepartment of Clinical Genetics, Carol Davila University of Medicine and Pharmacy, Filantropia Clinical Hospital, 011132 Bucharest, RomaniaDepartment of Pediatrics, Carol Davila University of Medicine and Pharmacy, “Grigore Alexandrescu” Emergency Hospital for Children, 011743 Bucharest, RomaniaDepartment of Pediatrics, Carol Davila University of Medicine and Pharmacy, “Grigore Alexandrescu” Emergency Hospital for Children, 011743 Bucharest, RomaniaBackground: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in <i>CREBBP</i> (CREB-binding protein gene). The CREB-binding protein (<i>CREBBP)</i> and <i>EP300</i> 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 “<i>CREBBP</i>”. 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 <i>CREBBP</i> gene involved in MHS, and we make formal recommendations based on our literature review.https://www.mdpi.com/2227-9067/9/5/759Menke–Hennekam syndromewhole exome sequenceexons 30 and 31<i>CREBBP</i>failure to thrivedevelopmental delay |
| spellingShingle | Aurora Sima Roxana Elena Smădeanu Anca Angela Simionescu Florina Nedelea Andreea-Maria Vlad Cristina Becheanu Menke–Hennekam Syndrome: A Literature Review and a New Case Report Children Menke–Hennekam syndrome whole exome sequence exons 30 and 31 <i>CREBBP</i> failure to thrive developmental delay |
| 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 | Menke–Hennekam syndrome whole exome sequence exons 30 and 31 <i>CREBBP</i> failure to thrive developmental delay |
| url | https://www.mdpi.com/2227-9067/9/5/759 |
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