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Size and methylation mosaicisms are commonly observed in FXS patients. Both types of mosaicisms might be associated with less severe phenotypes depending on the number of cells expressing FMRP. Although this dynamic mutation is the main underlying cause of FXS, other mechanisms, including point mutations or deletions, can lead to FXS. Several reports have demonstrated that de novo deletions including the entire or a portion of the FMR1 gene end up with the absence of FMRP and, thus, can lead to the typical clinical features of FXS. However, very little is known about the clinical manifestations associated with FMR1 gene deletions in mosaicism. Here, we report an FXS case caused by an entire hemizygous deletion of the FMR1 gene caused by maternal mosaicism. This manuscript reports this case and a literature review of the clinical manifestations presented by carriers of FMR1 gene deletions in mosaicism.<\/jats:p>","DOI":"10.3390\/genes13091609","type":"journal-article","created":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T09:51:09Z","timestamp":1662630669000},"page":"1609","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review"],"prefix":"10.3390","volume":"13","author":[{"given":"Maria Jose","family":"G\u00f3mez-Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"Network Center for Biomedical Research in Cancer (CIBERONC), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Morales-Conejo","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Arteche-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4504-4907","authenticated-orcid":false,"given":"Maria Teresa","family":"S\u00e1nchez-Calv\u00edn","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4420-5214","authenticated-orcid":false,"given":"Juan Francisco","family":"Quesada-Espinosa","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7137-1915","authenticated-orcid":false,"given":"Irene","family":"G\u00f3mez-Manj\u00f3n","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1718-4390","authenticated-orcid":false,"given":"Carmen","family":"Palma-Milla","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3510-2077","authenticated-orcid":false,"given":"Jose Miguel","family":"Lezana-Rosales","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2749-2709","authenticated-orcid":false,"given":"Ruben","family":"P\u00e9rez de la Fuente","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria-Luisa","family":"Martin-Ramos","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Fern\u00e1ndez-Guijarro","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Moreno-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"UdisGen-Unidad de Dismorfolog\u00eda y Gen\u00e9tica, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3788-8915","authenticated-orcid":false,"given":"Maria Isabel","family":"Alvarez-Mora","sequence":"additional","affiliation":[{"name":"Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"Department of Biochemistry and Molecular Genetic, Hospital Cl\u00ednic de Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.neuron.2013.02.022","article-title":"The unstable repeats\u2014Three evolving faces of neurological disease","volume":"77","author":"Nelson","year":"2013","journal-title":"Neuron"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Protic, D.D., Aishworiya, R., Salcedo-Arellano, M.J., Tang, S.J., Milisavljevic, J., Mitrovic, F., Hagerman, R.J., and Budimirovic, D.B. 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Rare Dis."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/9\/1609\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:27:35Z","timestamp":1760142455000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/9\/1609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,8]]},"references-count":20,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,9]]}},"alternative-id":["genes13091609"],"URL":"https:\/\/doi.org\/10.3390\/genes13091609","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,8]]}}}