A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

摘要

De novo missense variant identified in . Pedigree and photographs of the proband. The tilted square refers to unspecified sex. Location of the de novo missense variant at gene and protein level and alignment of H4 residues demonstrating that K91 as well as surrounding residues are highly conserved across species. At the genomic level, this A > G substitution is located at chr6:27792176 (hg19). See main text for more information on the nomenclature