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Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature

Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The precise genotype-phenotype correlations of different deletions has not been completely resolved. Asc...

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Autores principales: Deng, Ruizhi, McCalman, Melysia T., Bossuyt, Thomas P., Barakat, Tahsin Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8441011/
https://www.ncbi.nlm.nih.gov/pubmed/34539745
http://dx.doi.org/10.3389/fgene.2021.716874
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author Deng, Ruizhi
McCalman, Melysia T.
Bossuyt, Thomas P.
Barakat, Tahsin Stefan
author_facet Deng, Ruizhi
McCalman, Melysia T.
Bossuyt, Thomas P.
Barakat, Tahsin Stefan
author_sort Deng, Ruizhi
collection PubMed
description Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The precise genotype-phenotype correlations of different deletions has not been completely resolved. Ascertaining individuals with overlapping deletions and complex phenotypes may help to identify causative genes and improve understanding of 12q deletion syndromes. We here describe two individuals with non-overlapping 12q14 deletions encountered at our clinical genetics outpatient clinic and perform a review of all previously published interstitial 12q deletions to further delineate genotype-phenotype correlations. Both individuals presented with a neurodevelopmental disorder with various degrees of intellectual disability, failure to thrive and dysmorphic features. Previously, larger deletions overlapping large parts of the deletions encountered in both individuals have been described. Whereas, individual 1 seems to fit into the previously described phenotypic spectrum of the 12q14 microdeletion syndrome, individual 2 displays more severe neurological symptoms, which are likely caused by haploinsufficiency of the BAF complex member SMARCC2, which is included in the deletion. We furthermore perform a review of all previously published interstitial 12q deletions which we found to cluster amongst 5 regions on chromosome 12, to further delineate genotype-phenotype correlations, and we discuss likely disease relevant genes for each of these deletion clusters. Together, this expands knowledge on deletions on chromosome 12q which might facilitate patient counseling. Also, it illustrates that re-analysis of previously described microdeletions syndromes in the next generation sequencing era can be useful to delineate genotype-phenotype correlations and identify disease relevant genes in individuals with neurodevelopmental disorders.
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spelling pubmed-84410112021-09-16 Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature Deng, Ruizhi McCalman, Melysia T. Bossuyt, Thomas P. Barakat, Tahsin Stefan Front Genet Genetics Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The precise genotype-phenotype correlations of different deletions has not been completely resolved. Ascertaining individuals with overlapping deletions and complex phenotypes may help to identify causative genes and improve understanding of 12q deletion syndromes. We here describe two individuals with non-overlapping 12q14 deletions encountered at our clinical genetics outpatient clinic and perform a review of all previously published interstitial 12q deletions to further delineate genotype-phenotype correlations. Both individuals presented with a neurodevelopmental disorder with various degrees of intellectual disability, failure to thrive and dysmorphic features. Previously, larger deletions overlapping large parts of the deletions encountered in both individuals have been described. Whereas, individual 1 seems to fit into the previously described phenotypic spectrum of the 12q14 microdeletion syndrome, individual 2 displays more severe neurological symptoms, which are likely caused by haploinsufficiency of the BAF complex member SMARCC2, which is included in the deletion. We furthermore perform a review of all previously published interstitial 12q deletions which we found to cluster amongst 5 regions on chromosome 12, to further delineate genotype-phenotype correlations, and we discuss likely disease relevant genes for each of these deletion clusters. Together, this expands knowledge on deletions on chromosome 12q which might facilitate patient counseling. Also, it illustrates that re-analysis of previously described microdeletions syndromes in the next generation sequencing era can be useful to delineate genotype-phenotype correlations and identify disease relevant genes in individuals with neurodevelopmental disorders. Frontiers Media S.A. 2021-09-01 /pmc/articles/PMC8441011/ /pubmed/34539745 http://dx.doi.org/10.3389/fgene.2021.716874 Text en Copyright © 2021 Deng, McCalman, Bossuyt and Barakat. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Deng, Ruizhi
McCalman, Melysia T.
Bossuyt, Thomas P.
Barakat, Tahsin Stefan
Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
title Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
title_full Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
title_fullStr Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
title_full_unstemmed Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
title_short Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
title_sort case report: two new cases of chromosome 12q14 deletions and review of the literature
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8441011/
https://www.ncbi.nlm.nih.gov/pubmed/34539745
http://dx.doi.org/10.3389/fgene.2021.716874
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