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Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
BACKGROUND: Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss‐Kruszka syndrome...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009906/ https://www.ncbi.nlm.nih.gov/pubmed/36461789 http://dx.doi.org/10.1002/mgg3.2116 |
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author | Brady, Lauren Ballantyne, Mark Duck, John Fisker, Thomas Kleefman, Ryan Li, Chumei Nfonsam, Landry Schultz, Lee‐Anne Tarnopolsky, Mark McCready, Elizabeth |
author_facet | Brady, Lauren Ballantyne, Mark Duck, John Fisker, Thomas Kleefman, Ryan Li, Chumei Nfonsam, Landry Schultz, Lee‐Anne Tarnopolsky, Mark McCready, Elizabeth |
author_sort | Brady, Lauren |
collection | PubMed |
description | BACKGROUND: Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss‐Kruszka syndrome (OMIM# 618619). There are several older reports in the literature and DECIPER detailing individuals with interstitial deletions of 9q31 involving the ZNF462 gene. Many of the characteristic facial features described in these microdeletion cases are similar to those who have been diagnosed with Weiss‐Kruszka syndrome. METHODS: We describe three additional patients with overlapping 9q31 deletions and compare the phenotypes of the microdeletion cases reported in the literature to Weiss‐Kruszka syndrome. RESULTS: Phenotypic overlap was observed between patients with 9q31 deletions and Weiss‐Kruszka syndrome. Several additional features were noted in 9q31 deletion patients, including hearing loss, small head circumference, palate abnormalities and short stature. CONCLUSIONS: The common region of overlap of microdeletion cases implicates ZNF462 as the main driver of the recognizable 9q31 microdeletion phenotype. The observation of additional features in patients with 9q31 microdeletions that are not reported in Weiss‐Kruszka syndrome further suggests that other genes from the 9q31 region likely act synergistically with ZNF462 to affect phenotypic expression. |
format | Online Article Text |
id | pubmed-10009906 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-100099062023-03-14 Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462 Brady, Lauren Ballantyne, Mark Duck, John Fisker, Thomas Kleefman, Ryan Li, Chumei Nfonsam, Landry Schultz, Lee‐Anne Tarnopolsky, Mark McCready, Elizabeth Mol Genet Genomic Med Clinical Reports BACKGROUND: Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss‐Kruszka syndrome (OMIM# 618619). There are several older reports in the literature and DECIPER detailing individuals with interstitial deletions of 9q31 involving the ZNF462 gene. Many of the characteristic facial features described in these microdeletion cases are similar to those who have been diagnosed with Weiss‐Kruszka syndrome. METHODS: We describe three additional patients with overlapping 9q31 deletions and compare the phenotypes of the microdeletion cases reported in the literature to Weiss‐Kruszka syndrome. RESULTS: Phenotypic overlap was observed between patients with 9q31 deletions and Weiss‐Kruszka syndrome. Several additional features were noted in 9q31 deletion patients, including hearing loss, small head circumference, palate abnormalities and short stature. CONCLUSIONS: The common region of overlap of microdeletion cases implicates ZNF462 as the main driver of the recognizable 9q31 microdeletion phenotype. The observation of additional features in patients with 9q31 microdeletions that are not reported in Weiss‐Kruszka syndrome further suggests that other genes from the 9q31 region likely act synergistically with ZNF462 to affect phenotypic expression. John Wiley and Sons Inc. 2022-12-03 /pmc/articles/PMC10009906/ /pubmed/36461789 http://dx.doi.org/10.1002/mgg3.2116 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Clinical Reports Brady, Lauren Ballantyne, Mark Duck, John Fisker, Thomas Kleefman, Ryan Li, Chumei Nfonsam, Landry Schultz, Lee‐Anne Tarnopolsky, Mark McCready, Elizabeth Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462 |
title | Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
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title_full | Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
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title_fullStr | Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
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title_full_unstemmed | Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
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title_short | Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
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title_sort | further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing znf462 |
topic | Clinical Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009906/ https://www.ncbi.nlm.nih.gov/pubmed/36461789 http://dx.doi.org/10.1002/mgg3.2116 |
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