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APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement...

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Autores principales: Privitera, Flavia, Piccini, Flavia, Recalcati, Maria Paola, Presi, Silvia, Mazzola, Silvia, Carrera, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379344/
https://www.ncbi.nlm.nih.gov/pubmed/37510409
http://dx.doi.org/10.3390/genes14071505
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author Privitera, Flavia
Piccini, Flavia
Recalcati, Maria Paola
Presi, Silvia
Mazzola, Silvia
Carrera, Paola
author_facet Privitera, Flavia
Piccini, Flavia
Recalcati, Maria Paola
Presi, Silvia
Mazzola, Silvia
Carrera, Paola
author_sort Privitera, Flavia
collection PubMed
description The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the APC gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome). Although the development of gastrointestinal tract malignancies has been extensively described, the genetic causes underlying neurologic manifestations have never been investigated. In this study, we described a new patient with a 19.85 Mb interstitial deletion identified by array-CGH and compared the deletions and the phenotypes reported in other patients already described in the literature and the Decipher database. Overlapping deletions allowed us to highlight a common region in 5q22.1q23.1, identifying KCNN2 (5q22.3) as the most likely candidate gene contributing to the neurologic phenotype.
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spelling pubmed-103793442023-07-29 APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature Privitera, Flavia Piccini, Flavia Recalcati, Maria Paola Presi, Silvia Mazzola, Silvia Carrera, Paola Genes (Basel) Article The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the APC gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome). Although the development of gastrointestinal tract malignancies has been extensively described, the genetic causes underlying neurologic manifestations have never been investigated. In this study, we described a new patient with a 19.85 Mb interstitial deletion identified by array-CGH and compared the deletions and the phenotypes reported in other patients already described in the literature and the Decipher database. Overlapping deletions allowed us to highlight a common region in 5q22.1q23.1, identifying KCNN2 (5q22.3) as the most likely candidate gene contributing to the neurologic phenotype. MDPI 2023-07-23 /pmc/articles/PMC10379344/ /pubmed/37510409 http://dx.doi.org/10.3390/genes14071505 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
Privitera, Flavia
Piccini, Flavia
Recalcati, Maria Paola
Presi, Silvia
Mazzola, Silvia
Carrera, Paola
APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature
title APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature
title_full APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature
title_fullStr APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature
title_full_unstemmed APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature
title_short APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature
title_sort apc-related phenotypes and intellectual disability in 5q interstitial deletions: a new case and review of the literature
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379344/
https://www.ncbi.nlm.nih.gov/pubmed/37510409
http://dx.doi.org/10.3390/genes14071505
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