Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report

Subba Rao Indugula; Sofia Saenz Ayala; Francesco Vetrini; Alyce Belonis; Wenying Zhang

doi:10.1002/ccr3.5370

Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report

Clin Case Rep. 2022 Feb 7;10(2):e05370. doi: 10.1002/ccr3.5370. eCollection 2022 Feb.

Authors

Subba Rao Indugula¹, Sofia Saenz Ayala¹, Francesco Vetrini², Alyce Belonis^{1

3}, Wenying Zhang^{1

3}

Affiliations

¹ Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.
² Department of Medical and Molecular Genetics Undiagnosed Rare Disease Clinic Indiana University School of Medicine Indianapolis Indiana USA.
³ Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA.

Abstract

Rahman syndrome is a rare congenital anomaly syndrome recently described, which results from pathogenic variants in the HIST1H1E gene. The condition is characterized by variable somatic overgrowth, macrocephaly, distinctive facial features, intellectual disability, and behavioral problems. This report extends the genotype and clinical phenotype of HIST1H1E-associated Rahman syndrome.

Keywords: HIST1H1E; Rahman syndrome; developmental delay; macrocephaly.

Publication types

Case Reports