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Case Report

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

by
Maria Jose Gómez-Rodríguez
1,2,3,
Montserrat Morales-Conejo
4,
Ana Arteche-López
1,2,
Maria Teresa Sánchez-Calvín
1,2,
Juan Francisco Quesada-Espinosa
1,2,
Irene Gómez-Manjón
1,2,
Carmen Palma-Milla
1,2,
Jose Miguel Lezana-Rosales
1,2,
Ruben Pérez de la Fuente
1,2,
Maria-Luisa Martin-Ramos
1,2,
Manuela Fernández-Guijarro
1,2,
Marta Moreno-García
1,2 and
Maria Isabel Alvarez-Mora
1,5,*
1
Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain
2
UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain
3
Network Center for Biomedical Research in Cancer (CIBERONC), 28029 Madrid, Spain
4
Internal Medicine Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain
5
Department of Biochemistry and Molecular Genetic, Hospital Clínic de Barcelona, 08036 Barcelona, Spain
*
Author to whom correspondence should be addressed.
Genes 2022, 13(9), 1609; https://doi.org/10.3390/genes13091609
Submission received: 1 August 2022 / Revised: 5 September 2022 / Accepted: 6 September 2022 / Published: 8 September 2022
(This article belongs to the Special Issue Fragile X Syndrome Genetics)
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Abstract

Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1 gene. 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.
Keywords: FMR1; FMR1 gene deletion; fragile X syndrome; mosaicism; rare FXS mutation FMR1; FMR1 gene deletion; fragile X syndrome; mosaicism; rare FXS mutation

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MDPI and ACS Style

Gómez-Rodríguez, M.J.; Morales-Conejo, M.; Arteche-López, A.; Sánchez-Calvín, M.T.; Quesada-Espinosa, J.F.; Gómez-Manjón, I.; Palma-Milla, C.; Lezana-Rosales, J.M.; Pérez de la Fuente, R.; Martin-Ramos, M.-L.; et al. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review. Genes 2022, 13, 1609. https://doi.org/10.3390/genes13091609

AMA Style

Gómez-Rodríguez MJ, Morales-Conejo M, Arteche-López A, Sánchez-Calvín MT, Quesada-Espinosa JF, Gómez-Manjón I, Palma-Milla C, Lezana-Rosales JM, Pérez de la Fuente R, Martin-Ramos M-L, et al. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review. Genes. 2022; 13(9):1609. https://doi.org/10.3390/genes13091609

Chicago/Turabian Style

Gómez-Rodríguez, Maria Jose, Montserrat Morales-Conejo, Ana Arteche-López, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Irene Gómez-Manjón, Carmen Palma-Milla, Jose Miguel Lezana-Rosales, Ruben Pérez de la Fuente, Maria-Luisa Martin-Ramos, and et al. 2022. "Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review" Genes 13, no. 9: 1609. https://doi.org/10.3390/genes13091609

APA Style

Gómez-Rodríguez, M. J., Morales-Conejo, M., Arteche-López, A., Sánchez-Calvín, M. T., Quesada-Espinosa, J. F., Gómez-Manjón, I., Palma-Milla, C., Lezana-Rosales, J. M., Pérez de la Fuente, R., Martin-Ramos, M.-L., Fernández-Guijarro, M., Moreno-García, M., & Alvarez-Mora, M. I. (2022). Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review. Genes, 13(9), 1609. https://doi.org/10.3390/genes13091609

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