Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome.

ABSTRACT

Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.