Open AccessExtending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
Author(s) -
Hallermayr Ariane,
Graf Janine,
Koehler Udo,
Laner Andreas,
Schönfeld Brigitte,
BenetPagès Anna,
HolinskiFeder Elke
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1830
Subject(s) - gene , genetics , loss of heterozygosity , medicine , nucleotide , mutation , single nucleotide polymorphism , computational biology , bioinformatics , biology , genotype , allele
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 .