Expansion of -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.

Variants in have recently been associated with an autosomal dominant form of -related neurodevelopmental disorders. Using whole exome sequencing, patients with neurological phenotypes including hypotonia, developmental delay, learning disabilities, and seizures were identified to have de novo variants in . We describe a proband with features similar to the previously described cases with variants, but including additional features, such as short stature, delayed bone age, and delayed puberty. Exome sequencing revealed a novel pathogenic nonsense variant, c.190A>T (p.Lys64*; NM_005859), in that was not inherited from the proband's mother. In the recent literature, a significant number of patients with variants in have been described, but to our knowledge, none of these patients have the delayed bone age and growth plateau observed in the proband. It is therefore possible that the above PURA variant may be responsible for the novel features and thus expands the PURA-related phenotype spectrum.