Ontology highlight
ABSTRACT:
SUBMITTER: Tessadori F
PROVIDER: S-EPMC7171094 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Tessadori Federico F Rehman Atteeq U AU Giltay Jacques C JC Xia Fan F Streff Haley H Duran Karen K Bakkers Jeroen J Lalani Seema R SR van Haaften Gijs G
European journal of human genetics : EJHG 20191205 5
We report here a de novo missense variant in HIST1H4J resulting in a complex syndrome combining growth delay, microcephaly and intellectual disability. Trio whole exome sequencing (WES) revealed that the proband was heterozygous for a de novo c.274 A > G p.(K91E) variant in HIST1H4J, a gene not yet associated with human disease. The patient presented with profound intellectual disability, microcephaly, and dysmorphic facial features. Functional consequences of the identified de novo missense var ...[more]