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Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patients with the recurrent deletion. To examine the pres...

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Autores principales: Smyk, Marta, Geremek, Maciej, Ziemkiewicz, Kamila, Gambin, Tomasz, Kutkowska-Kaźmierczak, Anna, Kowalczyk, Katarzyna, Plaskota, Izabela, Wiśniowiecka-Kowalnik, Barbara, Bartnik-Głaska, Magdalena, Niemiec, Magdalena, Grad, Dominika, Piotrowicz, Małgorzata, Gieruszczak-Białek, Dorota, Pietrzyk, Aleksandra, Crowley, T. Blaine, Giunta, Victoria, McGinn, Daniel E., Zackai, Elaine H., Tran, Oanh, Emanuel, Beverly S., McDonald-McGinn, Donna M., Nowakowska, Beata A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048180/
https://www.ncbi.nlm.nih.gov/pubmed/36980952
http://dx.doi.org/10.3390/genes14030680
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author Smyk, Marta
Geremek, Maciej
Ziemkiewicz, Kamila
Gambin, Tomasz
Kutkowska-Kaźmierczak, Anna
Kowalczyk, Katarzyna
Plaskota, Izabela
Wiśniowiecka-Kowalnik, Barbara
Bartnik-Głaska, Magdalena
Niemiec, Magdalena
Grad, Dominika
Piotrowicz, Małgorzata
Gieruszczak-Białek, Dorota
Pietrzyk, Aleksandra
Crowley, T. Blaine
Giunta, Victoria
McGinn, Daniel E.
Zackai, Elaine H.
Tran, Oanh
Emanuel, Beverly S.
McDonald-McGinn, Donna M.
Nowakowska, Beata A.
author_facet Smyk, Marta
Geremek, Maciej
Ziemkiewicz, Kamila
Gambin, Tomasz
Kutkowska-Kaźmierczak, Anna
Kowalczyk, Katarzyna
Plaskota, Izabela
Wiśniowiecka-Kowalnik, Barbara
Bartnik-Głaska, Magdalena
Niemiec, Magdalena
Grad, Dominika
Piotrowicz, Małgorzata
Gieruszczak-Białek, Dorota
Pietrzyk, Aleksandra
Crowley, T. Blaine
Giunta, Victoria
McGinn, Daniel E.
Zackai, Elaine H.
Tran, Oanh
Emanuel, Beverly S.
McDonald-McGinn, Donna M.
Nowakowska, Beata A.
author_sort Smyk, Marta
collection PubMed
description 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patients with the recurrent deletion. To examine the presence of additional variants affecting the phenotype, we performed microarray in 82 prenatal and 77 postnatal cases and performed exome sequencing in 86 postnatal patients with 22q11.2DS. Within those 159 patients where array was performed, 5 pathogenic and 5 likely pathogenic CNVs were identified outside of the 22q11.2 region. This indicates that in 6.3% cases, additional CNVs most likely contribute to the clinical presentation. Additionally, exome sequencing in 86 patients revealed 3 pathogenic (3.49%) and 5 likely pathogenic (5.81%) SNVs and small CNV. These results show that the extension of diagnostics with genome-wide methods can reveal other clinically relevant changes in patients with 22q11 deletion syndrome.
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spelling pubmed-100481802023-03-29 Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome Smyk, Marta Geremek, Maciej Ziemkiewicz, Kamila Gambin, Tomasz Kutkowska-Kaźmierczak, Anna Kowalczyk, Katarzyna Plaskota, Izabela Wiśniowiecka-Kowalnik, Barbara Bartnik-Głaska, Magdalena Niemiec, Magdalena Grad, Dominika Piotrowicz, Małgorzata Gieruszczak-Białek, Dorota Pietrzyk, Aleksandra Crowley, T. Blaine Giunta, Victoria McGinn, Daniel E. Zackai, Elaine H. Tran, Oanh Emanuel, Beverly S. McDonald-McGinn, Donna M. Nowakowska, Beata A. Genes (Basel) Article 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patients with the recurrent deletion. To examine the presence of additional variants affecting the phenotype, we performed microarray in 82 prenatal and 77 postnatal cases and performed exome sequencing in 86 postnatal patients with 22q11.2DS. Within those 159 patients where array was performed, 5 pathogenic and 5 likely pathogenic CNVs were identified outside of the 22q11.2 region. This indicates that in 6.3% cases, additional CNVs most likely contribute to the clinical presentation. Additionally, exome sequencing in 86 patients revealed 3 pathogenic (3.49%) and 5 likely pathogenic (5.81%) SNVs and small CNV. These results show that the extension of diagnostics with genome-wide methods can reveal other clinically relevant changes in patients with 22q11 deletion syndrome. MDPI 2023-03-09 /pmc/articles/PMC10048180/ /pubmed/36980952 http://dx.doi.org/10.3390/genes14030680 Text en © 2023 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 Article
Smyk, Marta
Geremek, Maciej
Ziemkiewicz, Kamila
Gambin, Tomasz
Kutkowska-Kaźmierczak, Anna
Kowalczyk, Katarzyna
Plaskota, Izabela
Wiśniowiecka-Kowalnik, Barbara
Bartnik-Głaska, Magdalena
Niemiec, Magdalena
Grad, Dominika
Piotrowicz, Małgorzata
Gieruszczak-Białek, Dorota
Pietrzyk, Aleksandra
Crowley, T. Blaine
Giunta, Victoria
McGinn, Daniel E.
Zackai, Elaine H.
Tran, Oanh
Emanuel, Beverly S.
McDonald-McGinn, Donna M.
Nowakowska, Beata A.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
title Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
title_full Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
title_fullStr Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
title_full_unstemmed Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
title_short Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
title_sort coexisting conditions modifying phenotypes of patients with 22q11.2 deletion syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048180/
https://www.ncbi.nlm.nih.gov/pubmed/36980952
http://dx.doi.org/10.3390/genes14030680
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