1. A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature
- Author
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Erika Apuril, Angelo Selicorni, Laura Pezzoli, Maria Iascone, and Alessandra Pelle
- Subjects
Pediatrics ,medicine.medical_specialty ,Heterozygote ,media_common.quotation_subject ,Pathology and Forensic Medicine ,Histones ,03 medical and health sciences ,Protein Domains ,Wide nasal bridge ,Intellectual Disability ,Intellectual disability ,medicine ,Humans ,Genetic Predisposition to Disease ,Global developmental delay ,Girl ,Child ,Genetics (clinical) ,Alleles ,Genetic Association Studies ,030304 developmental biology ,RAHMAN SYNDROME ,media_common ,0303 health sciences ,business.industry ,030305 genetics & heredity ,Macrocephaly ,General Medicine ,medicine.disease ,Megalencephaly ,Phenotype ,Pediatrics, Perinatology and Child Health ,Mutation ,Female ,Anatomy ,medicine.symptom ,business ,Psychomotor delay - Abstract
Pathogenic variants of HIST1H1Egene have recently been associated with a condition known as Rahman syndrome, characterized by overgrowth, intellectual disability and nonspecific dysmorphic features (high hairline, full cheeks, wide nasal bridge). Wide clinical variability is reported, especially regarding the level of neurodevelopment delay and intellectual disability. We report a 10-year-old girl with macrocephaly and global developmental delay, in whom a novel heterozygous variant in the HIST1H1Egene [c.392_395dup (p.Gly133fs)] was discovered, but involving the same C-terminal domain-protein domain reported previously. Comparing the clinical data of our patient with those previously described, a 'core phenotype' with macrocephaly, psychomotor delay/intellectual disability and mild facial dysmorphisms seems evident.
- Published
- 2020