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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.
Inherited metabolic disorders (IMDs) are a heterogeneous group of rare diseases caused by genetic variants that disrupt key metabolic pathways. This retrospective study primarily aimed to characterize the molecular and genetic spectrum of IMD-related genes and assess the diagnostic yield of next-generation sequen...
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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