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Mosaicism in Fragile X Syndrome: A Family Case Series

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Title: Mosaicism in Fragile X Syndrome: A Family Case Series
Language: English
Authors: Saldarriaga, Wilmar (ORCID 0000-0001-7815-4390), González-Teshima, Laura Yuriko, Forero-Forero, Jose Vicente, Tang, Hiu-Tung, Tassone, Flora
Source: Journal of Intellectual Disabilities. Sep 2022 26(3):800-807.
Availability: SAGE Publications. 2455 Teller Road, Thousand Oaks, CA 91320. Tel: 800-818-7243; Tel: 805-499-9774; Fax: 800-583-2665; e-mail: journals@sagepub.com; Web site: https://sagepub.com
Peer Reviewed: Y
Page Count: 8
Publication Date: 2022
Document Type: Journal Articles
Reports - Research
Descriptors: Genetic Disorders, Heredity, Symptoms (Individual Disorders), Intellectual Disability, Foreign Countries
Geographic Terms: Colombia
DOI: 10.1177/1744629521995346
ISSN: 1744-6295
1744-6309
Abstract: Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 ("FMR1") gene, producing a variable expression of the Fragile X Mental Retardation Protein (FMRP). Here we report a family with several individuals affected by FXS: a boy with a hypermethylated "FMR1" mutation and a classic phenotype; a man with an "FMR1" gene mosaicism in the range of premutation (PM) and full mutation (FM), who has a mild phenotype due to which FXS was initially disregarded; and the cases of four women with a FM and mosaicism. This report highlights the importance of DNA molecular testing for the diagnosis of FXS in patients with developmental delay, intellectual disability and/or autism due to the variable phenotype that occurs in individuals with "FMR1" mosaicisms.
Abstractor: As Provided
Entry Date: 2022
Accession Number: EJ1350073
Database: ERIC
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  Data: Mosaicism in Fragile X Syndrome: A Family Case Series
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  Data: <searchLink fieldCode="AR" term="%22Saldarriaga%2C+Wilmar%22">Saldarriaga, Wilmar</searchLink> (ORCID <externalLink term="https://orcid.org/0000-0001-7815-4390">0000-0001-7815-4390</externalLink>)<br /><searchLink fieldCode="AR" term="%22González-Teshima%2C+Laura+Yuriko%22">González-Teshima, Laura Yuriko</searchLink><br /><searchLink fieldCode="AR" term="%22Forero-Forero%2C+Jose+Vicente%22">Forero-Forero, Jose Vicente</searchLink><br /><searchLink fieldCode="AR" term="%22Tang%2C+Hiu-Tung%22">Tang, Hiu-Tung</searchLink><br /><searchLink fieldCode="AR" term="%22Tassone%2C+Flora%22">Tassone, Flora</searchLink>
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  Data: <searchLink fieldCode="SO" term="%22Journal+of+Intellectual+Disabilities%22"><i>Journal of Intellectual Disabilities</i></searchLink>. Sep 2022 26(3):800-807.
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  Data: SAGE Publications. 2455 Teller Road, Thousand Oaks, CA 91320. Tel: 800-818-7243; Tel: 805-499-9774; Fax: 800-583-2665; e-mail: journals@sagepub.com; Web site: https://sagepub.com
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  Data: Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 ("FMR1") gene, producing a variable expression of the Fragile X Mental Retardation Protein (FMRP). Here we report a family with several individuals affected by FXS: a boy with a hypermethylated "FMR1" mutation and a classic phenotype; a man with an "FMR1" gene mosaicism in the range of premutation (PM) and full mutation (FM), who has a mild phenotype due to which FXS was initially disregarded; and the cases of four women with a FM and mosaicism. This report highlights the importance of DNA molecular testing for the diagnosis of FXS in patients with developmental delay, intellectual disability and/or autism due to the variable phenotype that occurs in individuals with "FMR1" mosaicisms.
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      – SubjectFull: Symptoms (Individual Disorders)
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      – SubjectFull: Foreign Countries
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      – SubjectFull: Colombia
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      – TitleFull: Mosaicism in Fragile X Syndrome: A Family Case Series
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            NameFull: Tang, Hiu-Tung
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