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

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.

SUBMITTER: Indugula SR

PROVIDER: S-EPMC8822259 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature

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

Indugula Subba Rao SR Ayala Sofia Saenz SS Vetrini Francesco F Belonis Alyce A Zhang Wenying W

Clinical case reports 20220207 2

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. ...[more]

PMID: 35154720

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