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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...

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Autores principales: Bi, Xin, Mulhern, Maureen S., Spiegel, Erica, Wapner, Ronald J., Levy, Brynn, Bain, Jennifer M., Liao, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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.
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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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