HIST1H1E syndrome with deficiency in multiple pituitary hormones.

Abstract

● We report the first case of HIST1H1E syndrome with hyposecretion of several pituitary hormones. ● De novo frameshift H1-4 mutations (c.441dup: p. (Lys148Glnfs*48)) were detected. ● A mutation at the C-terminus of H1-4 may result in DNA CpG hypomethylation and in nonspecific enhancement of gene expression in the central nervous system