Genes, Vol. 13, Pages 1609: Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

Genes, Vol. 13, Pages 1609: Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review Genes doi: 10.3390/genes13091609 Authors: Maria Jose Gómez-Rodríguez 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 Manuela Fernández-Guijarro Marta Moreno-García Maria Isabel Alvarez-Mora 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...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Case Report Source Type: research