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3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay
Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patient with developmental delays and brain abnormaliti...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530825/ https://www.ncbi.nlm.nih.gov/pubmed/37761828 http://dx.doi.org/10.3390/genes14091687 |
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author | Bi, Xin Mulhern, Maureen S. Spiegel, Erica Wapner, Ronald J. Levy, Brynn Bain, Jennifer M. Liao, Jun |
author_facet | Bi, Xin Mulhern, Maureen S. Spiegel, Erica Wapner, Ronald J. Levy, Brynn Bain, Jennifer M. Liao, Jun |
author_sort | Bi, Xin |
collection | PubMed |
description | Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patient with developmental delays and brain abnormalities. G-banded karyotype, FISH, SNP oligonucleotide microarray analysis (SOMA), and whole exome sequencing analysis were performed. Postnatal reanalysis of prenatal SOMA and follow-up parental testing revealed a paternally inherited 63 kb deletion at 1q42.11 in the patient. We characterized the clinical features of this patient, providing insight into the clinical phenotype associated with deletions of the 1q42.11 sub-band. Our study provides new evidence supporting the potential functional importance of the FBXO28 3′ UTR region and the hypothesis that FBXO28 is a critical gene in the pathogenesis of chromosome 1q41q42 microdeletion syndrome. It also highlights the different goals and reporting criteria between prenatal and postnatal microarray tests. |
format | Online Article Text |
id | pubmed-10530825 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-105308252023-09-28 3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay Bi, Xin Mulhern, Maureen S. Spiegel, Erica Wapner, Ronald J. Levy, Brynn Bain, Jennifer M. Liao, Jun Genes (Basel) Case Report Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patient with developmental delays and brain abnormalities. G-banded karyotype, FISH, SNP oligonucleotide microarray analysis (SOMA), and whole exome sequencing analysis were performed. Postnatal reanalysis of prenatal SOMA and follow-up parental testing revealed a paternally inherited 63 kb deletion at 1q42.11 in the patient. We characterized the clinical features of this patient, providing insight into the clinical phenotype associated with deletions of the 1q42.11 sub-band. Our study provides new evidence supporting the potential functional importance of the FBXO28 3′ UTR region and the hypothesis that FBXO28 is a critical gene in the pathogenesis of chromosome 1q41q42 microdeletion syndrome. It also highlights the different goals and reporting criteria between prenatal and postnatal microarray tests. MDPI 2023-08-25 /pmc/articles/PMC10530825/ /pubmed/37761828 http://dx.doi.org/10.3390/genes14091687 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 | Case Report Bi, Xin Mulhern, Maureen S. Spiegel, Erica Wapner, Ronald J. Levy, Brynn Bain, Jennifer M. Liao, Jun 3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay |
title | 3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay |
title_full | 3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay |
title_fullStr | 3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay |
title_full_unstemmed | 3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay |
title_short | 3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay |
title_sort | 3′ utr deletion of fbxo28 in a patient with brain abnormalities and developmental delay |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530825/ https://www.ncbi.nlm.nih.gov/pubmed/37761828 http://dx.doi.org/10.3390/genes14091687 |
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