Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report |
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| Authors: | Subba Rao Indugula Sofia Saenz Ayala Francesco Vetrini Alyce Belonis Wenying Zhang |
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| Affiliation: | 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 |
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| 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. |
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| Keywords: | developmental delay HIST1H1E macrocephaly Rahman syndrome |
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