Hist1h1e Syndrome

HIST1H1E previously named "Rahman Syndrome" is a part of the histone cluster located on the chromosome 6p22.2, that encodes the histone H1.4 protein, a member of the histone H1 family, which mediates an interaction between DNA and nucleosomes and regulates compaction of the chromatin, thereby affecting the accessibility of DNA for epigenetic modifiers. The HIST1H1E gene has recently been associated with autosomal dominant HIST1H1E Syndrome and there are 65 people reported in the medical literature with heterozygous truncating alterations in the HIST1H1E gene.

Clinical features in these people include mild to moderate intellectual disability with dysmorphic features during childhood that include full cheeks, high hairline, prominent forehead, “crumbly” teeth/thin enamel, soft/flaky nails, telecanthus and overgrowth in infancy that may either abate or persist into adulthood. Additional features may include hypotonia in 3/6 patients, macrocephaly in 5/6, poor feeding in 2/6 case, and global developmental delay in most patients.