Study

Exome-sequencing of two UFM individuals and their Fragile X family members.

Study ID Alternative Stable ID Type
EGAS00001001737 Other

Study Description

Fragile X syndrome (FXS) is a monogenic neurodevelopmental disease often caused by a CGG triplet expansion in the 5’UTR of the FMR1 gene, which results in DNA methylation of the FMR1 promoter and its transcriptional silencing. Exceptional healthy individuals named "unmethylated full mutation (UFM)" have been identified in the families of FX patients. They carry an expanded CGG repeat, but show normal FMR1 epigenetic configuration and expression. In this study we performed exome-sequencing of two UFM individuals and their family members to identify possible genetic mutations responsible for the escape of silencing in the unmethylated full mutation (UFM) phenotype.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001002276
Exome sequencing reads of two UFM individuals and their family members (totally 11 individuals) belonging to two different Fragile X families. Alignment files in BAM format are provided.
Illumina HiSeq 2000 11

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