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Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability

Long non-coding RNAs (lncRNAs), defined as transcripts of ≥200 nucleotides not translated into protein, have been involved in a wide range of regulatory functions. Their dysregulations have been associated with diverse pathological conditions such as cancer, schizophrenia, Parkinson’s, Huntington’s,...

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Autores principales: Miolo, Gianmaria, Bernardini, Laura, Capalbo, Anna, Favia, Anna, Goldoni, Marina, Pivetta, Barbara, Tessitori, Giovanni, Corona, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760855/
https://www.ncbi.nlm.nih.gov/pubmed/33255855
http://dx.doi.org/10.3390/diagnostics10121009
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author Miolo, Gianmaria
Bernardini, Laura
Capalbo, Anna
Favia, Anna
Goldoni, Marina
Pivetta, Barbara
Tessitori, Giovanni
Corona, Giuseppe
author_facet Miolo, Gianmaria
Bernardini, Laura
Capalbo, Anna
Favia, Anna
Goldoni, Marina
Pivetta, Barbara
Tessitori, Giovanni
Corona, Giuseppe
author_sort Miolo, Gianmaria
collection PubMed
description Long non-coding RNAs (lncRNAs), defined as transcripts of ≥200 nucleotides not translated into protein, have been involved in a wide range of regulatory functions. Their dysregulations have been associated with diverse pathological conditions such as cancer, schizophrenia, Parkinson’s, Huntington’s, Alzheimer’s diseases and Neurodevelopmental Disorders (NDDs), including autism spectrum disorders (ASDs). We report on the case of a five-year-old child with global developmental delay carrying a de novo microduplication on chromosome Xq26.2 region characterized by a DNA copy-number gain spanning about 147 Kb (chrX:130,813,232-130,960,617; GRCh37/hg19). This small microduplication encompassed the exons 2-12 of the functional intergenic repeating RNA element (FIRRE) gene (chrX:130,836,678-130,964,671; GRCh37/hg19) that encodes for a lncRNA involved in the maintenance of chromatin repression. The association of such a genetic alteration with a severe neurodevelopmental delay without clear dysmorphic features and congenital abnormalities indicative of syndromic condition further suggests that small Xq26.2 chromosomal region microduplications containing the FIRRE gene may be responsible for clinical phenotypes mainly characterized by structural or functioning neurological impairment.
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spelling pubmed-77608552020-12-26 Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability Miolo, Gianmaria Bernardini, Laura Capalbo, Anna Favia, Anna Goldoni, Marina Pivetta, Barbara Tessitori, Giovanni Corona, Giuseppe Diagnostics (Basel) Case Report Long non-coding RNAs (lncRNAs), defined as transcripts of ≥200 nucleotides not translated into protein, have been involved in a wide range of regulatory functions. Their dysregulations have been associated with diverse pathological conditions such as cancer, schizophrenia, Parkinson’s, Huntington’s, Alzheimer’s diseases and Neurodevelopmental Disorders (NDDs), including autism spectrum disorders (ASDs). We report on the case of a five-year-old child with global developmental delay carrying a de novo microduplication on chromosome Xq26.2 region characterized by a DNA copy-number gain spanning about 147 Kb (chrX:130,813,232-130,960,617; GRCh37/hg19). This small microduplication encompassed the exons 2-12 of the functional intergenic repeating RNA element (FIRRE) gene (chrX:130,836,678-130,964,671; GRCh37/hg19) that encodes for a lncRNA involved in the maintenance of chromatin repression. The association of such a genetic alteration with a severe neurodevelopmental delay without clear dysmorphic features and congenital abnormalities indicative of syndromic condition further suggests that small Xq26.2 chromosomal region microduplications containing the FIRRE gene may be responsible for clinical phenotypes mainly characterized by structural or functioning neurological impairment. MDPI 2020-11-25 /pmc/articles/PMC7760855/ /pubmed/33255855 http://dx.doi.org/10.3390/diagnostics10121009 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Miolo, Gianmaria
Bernardini, Laura
Capalbo, Anna
Favia, Anna
Goldoni, Marina
Pivetta, Barbara
Tessitori, Giovanni
Corona, Giuseppe
Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability
title Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability
title_full Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability
title_fullStr Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability
title_full_unstemmed Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability
title_short Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability
title_sort identification of a de novo xq26.2 microduplication encompassing firre gene in a child with intellectual disability
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760855/
https://www.ncbi.nlm.nih.gov/pubmed/33255855
http://dx.doi.org/10.3390/diagnostics10121009
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