Molecular Characteristics

Three individuals were described with biallelic variants affecting splice acceptor site and causing exon skipping.

Another individual with distinct phenotype was reported with homozygous nonsense variant, thought to result in loss of function through nonsense-mediated decay.

All reported variants are sequence variants that can be detected by sequencing POLR3GL, either in a single-gene testing approach, as part of a multigene panel or by exome/genome sequencing.