Literaturnachweis - Detailanzeige
| Autor/inn/en | Saldarriaga, Wilmar; González-Teshima, Laura Yuriko; Forero-Forero, Jose Vicente; Tang, Hiu-Tung; Tassone, Flora |
|---|---|
| Titel | Mosaicism in Fragile X Syndrome: A Family Case Series |
| Quelle | In: Journal of Intellectual Disabilities, 26 (2022) 3, S.800-807 (8 Seiten)
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| Zusatzinformation | ORCID (Saldarriaga, Wilmar) |
| Sprache | englisch |
| Dokumenttyp | gedruckt; online; Zeitschriftenaufsatz |
| ISSN | 1744-6295 |
| DOI | 10.1177/1744629521995346 |
| Schlagwörter | Genetic Disorders; Heredity; Symptoms (Individual Disorders); Intellectual Disability; Foreign Countries; Colombia |
| 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. (As Provided). |
| Anmerkungen | 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 |
| Erfasst von | ERIC (Education Resources Information Center), Washington, DC |
| Update | 2024/1/01 |
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