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De Novo Large Deletion Leading to Fragile X Syndrome

Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of the FMR1 gene, resulting in the absence of th...

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Autores principales: Jiraanont, Poonnada, Manor, Esther, Tabatadze, Nazi, Zafarullah, Marwa, Mendoza, Guadalupe, Melikishvili, Gia, Tassone, Flora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130735/
https://www.ncbi.nlm.nih.gov/pubmed/35646065
http://dx.doi.org/10.3389/fgene.2022.884424
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author Jiraanont, Poonnada
Manor, Esther
Tabatadze, Nazi
Zafarullah, Marwa
Mendoza, Guadalupe
Melikishvili, Gia
Tassone, Flora
author_facet Jiraanont, Poonnada
Manor, Esther
Tabatadze, Nazi
Zafarullah, Marwa
Mendoza, Guadalupe
Melikishvili, Gia
Tassone, Flora
author_sort Jiraanont, Poonnada
collection PubMed
description Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of the FMR1 gene, resulting in the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene have been described and account for approximately 1% of individuals with FXS. Here, we report a 7-year-old boy with FXS with a de novo deletion of approximately 1.1 Mb encompassing several genes, including the FMR1 and the ASFMR1 genes, and several miRNAs, whose lack of function could result in the observed proband phenotypes. In addition, we also demonstrate that FMR4 completely overlaps with ASFMR1, and there are no sequencing differences between both transcripts (i.e., ASFMR1/FMR4 throughout the article).
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spelling pubmed-91307352022-05-26 De Novo Large Deletion Leading to Fragile X Syndrome Jiraanont, Poonnada Manor, Esther Tabatadze, Nazi Zafarullah, Marwa Mendoza, Guadalupe Melikishvili, Gia Tassone, Flora Front Genet Genetics Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of the FMR1 gene, resulting in the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene have been described and account for approximately 1% of individuals with FXS. Here, we report a 7-year-old boy with FXS with a de novo deletion of approximately 1.1 Mb encompassing several genes, including the FMR1 and the ASFMR1 genes, and several miRNAs, whose lack of function could result in the observed proband phenotypes. In addition, we also demonstrate that FMR4 completely overlaps with ASFMR1, and there are no sequencing differences between both transcripts (i.e., ASFMR1/FMR4 throughout the article). Frontiers Media S.A. 2022-05-11 /pmc/articles/PMC9130735/ /pubmed/35646065 http://dx.doi.org/10.3389/fgene.2022.884424 Text en Copyright © 2022 Jiraanont, Manor, Tabatadze, Zafarullah, Mendoza, Melikishvili and Tassone. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Jiraanont, Poonnada
Manor, Esther
Tabatadze, Nazi
Zafarullah, Marwa
Mendoza, Guadalupe
Melikishvili, Gia
Tassone, Flora
De Novo Large Deletion Leading to Fragile X Syndrome
title De Novo Large Deletion Leading to Fragile X Syndrome
title_full De Novo Large Deletion Leading to Fragile X Syndrome
title_fullStr De Novo Large Deletion Leading to Fragile X Syndrome
title_full_unstemmed De Novo Large Deletion Leading to Fragile X Syndrome
title_short De Novo Large Deletion Leading to Fragile X Syndrome
title_sort de novo large deletion leading to fragile x syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130735/
https://www.ncbi.nlm.nih.gov/pubmed/35646065
http://dx.doi.org/10.3389/fgene.2022.884424
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