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Diagnostics
Volume 10
Issue 12
10.3390/diagnostics10121009
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Case Report

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

by
Gianmaria Miolo
1,2,*,†,
Laura Bernardini
3,†,
Anna Capalbo
3,
Anna Favia
4,
Marina Goldoni
3,
Barbara Pivetta
1,
Giovanni Tessitori
1 and
Giuseppe Corona
5
1
Medical Laboratory Department, Genetics Section, Pordenone Hospital, 33170 Pordenone, Italy
2
Medical Oncology and Cancer Prevention Unit, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, 33081 Aviano, Italy
3
Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS Foundation, 71013 San Giovanni Rotondo, Italy
4
Department of Pediatrics, Pordenone Hospital, 33170 Pordenone, Italy
5
Immunopathology and Cancer Biomarkers Unit, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, 33081 Aviano, Italy
*
Author to whom correspondence should be addressed.
†
These authors equally contributed to this work.
Diagnostics 2020, 10(12), 1009; https://doi.org/10.3390/diagnostics10121009
Submission received: 28 October 2020 / Revised: 21 November 2020 / Accepted: 24 November 2020 / Published: 25 November 2020
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Abstract

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.
Keywords: FIRRE gene; intellectual disability; lncRNA; microduplication; chromosomal microarray analysis FIRRE gene; intellectual disability; lncRNA; microduplication; chromosomal microarray analysis

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MDPI and ACS Style

Miolo, G.; Bernardini, L.; Capalbo, A.; Favia, A.; Goldoni, M.; Pivetta, B.; Tessitori, G.; Corona, G. Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability. Diagnostics 2020, 10, 1009. https://doi.org/10.3390/diagnostics10121009

AMA Style

Miolo G, Bernardini L, Capalbo A, Favia A, Goldoni M, Pivetta B, Tessitori G, Corona G. Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability. Diagnostics. 2020; 10(12):1009. https://doi.org/10.3390/diagnostics10121009

Chicago/Turabian Style

Miolo, Gianmaria, Laura Bernardini, Anna Capalbo, Anna Favia, Marina Goldoni, Barbara Pivetta, Giovanni Tessitori, and Giuseppe Corona. 2020. "Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability" Diagnostics 10, no. 12: 1009. https://doi.org/10.3390/diagnostics10121009

APA Style

Miolo, G., Bernardini, L., Capalbo, A., Favia, A., Goldoni, M., Pivetta, B., Tessitori, G., & Corona, G. (2020). Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability. Diagnostics, 10(12), 1009. https://doi.org/10.3390/diagnostics10121009

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