Mosaicism in Fragile X Syndrome: A Family Case Series
Saved in:
| Title: | Mosaicism in Fragile X Syndrome: A Family Case Series |
|---|---|
| Language: | English |
| Authors: | Saldarriaga, Wilmar (ORCID |
| 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 |
| 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. |
|---|---|
| ISSN: | 1744-6295 1744-6309 |
| DOI: | 10.1177/1744629521995346 |
