Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome. Issue 11 (11th October 2018)

• Record Type: Journal Article
• Authors: Hallermayr, Ariane; Graf, Janine; Koehler, Udo; Laner, Andreas; Schönfeld, Brigitte; Benet‐Pagès, Anna; Holinski‐Feder, Elke
• Is Part Of: Clinical case reports. Volume 6:Issue 11(2018)
• Page Start: 2224
• Page End: 2228
• Publication Date: 2018-10-11
• Subjects: clinical exome sequencing -- minor intron splicing -- NR_023343.1:n.116A>C -- NR_023343.1:n.13C>T -- RNU4ATAC -- Roifman Syndrome -- snRNA U4atac; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1830
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.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 . Abstract : Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.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 .