PAN2 mutations in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
A new study published in the European Journal of Human Genetics identified bi-allelic variants (loss-of-function) in PAN2 (important functions in mRNA stability and post-transcriptional regulation of gene expression), within five individuals (from three unrelated families) who express numerous significant overlaps in their clinical features (notably neurodevelopmental). The data confirm a causal relationship for a syndrome with multiple congenital anomalies, and suggest an important role of mRNA polyA tail length for proper organ formation.