Pathogenic variants in the PURA gene were initially reported in relation to autosomal dominant PURA syndrome, a complex neurodevelopmental disorder, in 2014 (Lalani et al. PMID: 25439098). At least 50 unique variants variants (e.g. missense, in-frame indel, nonsense, frameshift, large deletions) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data.
More evidence is available in the literature, but the maximum score for genetic evidence and experimental evidence (12 pts.) has been reached.
In summary, PURA is definitively associated with an autosomal dominant complex neurodevelopmental disorder. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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