PubMed ID | Description |
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27003583 | Steinfeld et al. Used whole exome sequencing (WES) to study 3,699 patients with neuro-developmental disorders. A total of six unrelated patients were found to have heterozygous de novo variants in HIVPE2. Five of the patients had predicted loss-of-function variants: 2 nonsense and 3 frameshift. The Sixth had a missense variant that is predicted to be damaging. The patients phenotype included developmental delay, intellectual disability and dysmorphic features. |
26153216 | Srivastava et al., 2015. Used whole exome sequencing (WES) to study patients with ID or global developmental delay at different centers. Three patients were identified with de novo loss-of-function variants in HIVEP2 and confirmed by Sanger sequencing. 2 were nonsense and 1 was a 1bp deletion resulting in a premature stop codon. All patients presented intellectual disability, hypotonia, and dysmorphic features. |
23020937 | Rauch et al., 2012; Studied 51 patients from the German Mental Retardation Network. They reported a de novo frameshift variant in HIVEP2 identified by whole exome sequencing (WES) in a patient with non-specific intellectual disability. |
No duplications involving only the entire HIVEP2 gene reported.