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The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.
Findings have important implications for genetic counseling and early diagnosis, particularly in consanguineous populations, and considering treatable genes in this study could be valuable for inclusion in national screening panels and improve early clinical management.
The second description of POLR3A-related CMT is presented and the role of RNA polymerase III dysfunction in peripheral neuropathy is supported and the molecular and geographical spectrum of POLR3A-related neuropathy is expanded.
In a challenging, ES‐negative ARID cohort, GS provided an additional ~5.3% diagnostic yield by uncovering a noncoding splice alteration and a large intragenic deletion and highlight significant interpretation challenges in noncoding regions.
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