Open AccessExome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
Author(s) -
Indugula Subba Rao,
Ayala Sofia Saenz,
Vetrini Francesco,
Belonis Alyce,
Zhang Wenying
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5370
Subject(s) - macrocephaly , medicine , exome sequencing , genetics , intellectual disability , phenotype , noonan syndrome , pediatrics , bioinformatics , gene , biology , psychiatry
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.