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Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder

The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by proteins regulating the interaction between the co...

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Autores principales: Di Muro, Ester, Palumbo, Pietro, Benvenuto, Mario, Accadia, Maria, Di Giacomo, Marilena Carmela, Manieri, Sergio, Abate, Rosaria, Tagliente, Maria, Castellana, Stefano, Mazza, Tommaso, Carella, Massimo, Palumbo, Orazio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392311/
https://www.ncbi.nlm.nih.gov/pubmed/34440290
http://dx.doi.org/10.3390/genes12081116
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author Di Muro, Ester
Palumbo, Pietro
Benvenuto, Mario
Accadia, Maria
Di Giacomo, Marilena Carmela
Manieri, Sergio
Abate, Rosaria
Tagliente, Maria
Castellana, Stefano
Mazza, Tommaso
Carella, Massimo
Palumbo, Orazio
author_facet Di Muro, Ester
Palumbo, Pietro
Benvenuto, Mario
Accadia, Maria
Di Giacomo, Marilena Carmela
Manieri, Sergio
Abate, Rosaria
Tagliente, Maria
Castellana, Stefano
Mazza, Tommaso
Carella, Massimo
Palumbo, Orazio
author_sort Di Muro, Ester
collection PubMed
description The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by proteins regulating the interaction between the complex and the chromosomes. Mutations in the genes coding for these proteins have been demonstrated to cause multisystem developmental disorders known as “cohesinopathies”. The most frequent and well recognized among these distinctive clinical conditions are the Cornelia de Lange syndrome (CdLS, OMIM 122470) and Roberts syndrome (OMIM 268300). STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. Pathogenic variants in STAG1 gene have recently been reported to cause an emerging syndromic form of neurodevelopmental disorder that is to date poorly characterized. Here, we describe a 5 year old female patient with neurodevelopmental delay, mild intellectual disability, dysmorphic features and congenital anomalies, in which next generation sequencing analysis allowed us to identify a novel pathogenic variation c.2769_2770del p.(Ile924Serfs*8) in STAG1 gene, which result to be de novo. The variant has never been reported before in medical literature and is absent in public databases. Thus, it is useful to expand the molecular spectrum of clinically relevant alterations of STAG1 and their phenotypic consequences.
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spelling pubmed-83923112021-08-28 Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder Di Muro, Ester Palumbo, Pietro Benvenuto, Mario Accadia, Maria Di Giacomo, Marilena Carmela Manieri, Sergio Abate, Rosaria Tagliente, Maria Castellana, Stefano Mazza, Tommaso Carella, Massimo Palumbo, Orazio Genes (Basel) Case Report The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by proteins regulating the interaction between the complex and the chromosomes. Mutations in the genes coding for these proteins have been demonstrated to cause multisystem developmental disorders known as “cohesinopathies”. The most frequent and well recognized among these distinctive clinical conditions are the Cornelia de Lange syndrome (CdLS, OMIM 122470) and Roberts syndrome (OMIM 268300). STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. Pathogenic variants in STAG1 gene have recently been reported to cause an emerging syndromic form of neurodevelopmental disorder that is to date poorly characterized. Here, we describe a 5 year old female patient with neurodevelopmental delay, mild intellectual disability, dysmorphic features and congenital anomalies, in which next generation sequencing analysis allowed us to identify a novel pathogenic variation c.2769_2770del p.(Ile924Serfs*8) in STAG1 gene, which result to be de novo. The variant has never been reported before in medical literature and is absent in public databases. Thus, it is useful to expand the molecular spectrum of clinically relevant alterations of STAG1 and their phenotypic consequences. MDPI 2021-07-23 /pmc/articles/PMC8392311/ /pubmed/34440290 http://dx.doi.org/10.3390/genes12081116 Text en © 2021 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
Di Muro, Ester
Palumbo, Pietro
Benvenuto, Mario
Accadia, Maria
Di Giacomo, Marilena Carmela
Manieri, Sergio
Abate, Rosaria
Tagliente, Maria
Castellana, Stefano
Mazza, Tommaso
Carella, Massimo
Palumbo, Orazio
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
title Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
title_full Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
title_fullStr Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
title_full_unstemmed Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
title_short Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
title_sort novel stag1 frameshift mutation in a patient affected by a syndromic form of neurodevelopmental disorder
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392311/
https://www.ncbi.nlm.nih.gov/pubmed/34440290
http://dx.doi.org/10.3390/genes12081116
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