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- W4280491215 abstract "Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5'UTR of the FMR1 gene, resulting in the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene have been described and account for approximately 1% of individuals with FXS. Here, we report a 7-year-old boy with FXS with a de novo deletion of approximately 1.1 Mb encompassing several genes, including the FMR1 and the ASFMR1 genes, and several miRNAs, whose lack of function could result in the observed proband phenotypes. In addition, we also demonstrate that FMR4 completely overlaps with ASFMR1, and there are no sequencing differences between both transcripts (i.e., ASFMR1/FMR4 throughout the article)." @default.
- W4280491215 created "2022-05-22" @default.
- W4280491215 creator A5006100081 @default.
- W4280491215 creator A5011023379 @default.
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- W4280491215 creator A5063631141 @default.
- W4280491215 creator A5067077815 @default.
- W4280491215 creator A5083785742 @default.
- W4280491215 date "2022-05-11" @default.
- W4280491215 modified "2023-09-30" @default.
- W4280491215 title "De Novo Large Deletion Leading to Fragile X Syndrome" @default.
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