Intellectual disability syndromic and non-syndromic
Gene: DPF2

DPF2 (double PHD fingers 2)
EnsemblGeneIds (GRCh38): ENSG00000133884
EnsemblGeneIds (GRCh37): ENSG00000133884
OMIM: 601671, Gene2Phenotype
DPF2 is in 4 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails.

Vasileiou et al. (2018) identified 8 different de novo heterozygous mutations in the DPF2 gene . There were 5 missense mutations, 2 splice site mutations, and 1 frameshift mutation. The missense mutations affected highly conserved residues in the PHD1 or PHD2 finger domains, which are responsible for the recognition of histone modifications. The mutations were close to zinc binding sites, most likely disrupting these sites and the protein structure. In vitro functional expression studies of 3 of the missense mutations (p.C276F, p.C330W and p.R350H) showed that they resulted in abolished or strongly attenuated binding to certain modified and unmodified H3 histone tails.

Milone et al (2020) identified a boy with a novel mutation in DPF2, with a mild Coffin Siris syndrome 7 phenotype, with a history of developmental delay, especially regarding speech and language, and dysmorphic features resembling a syndromic condition.
Created: 5 Jan 2022, 12:50 a.m. | Last Modified: 5 Jan 2022, 12:50 a.m.

Panel Version: 0.4404

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 7 MIM#618027

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Jan 2022, 12:50 a.m.
Last Modified: 5 Jan 2022, 12:50 a.m.
Panel version: 0.4404

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Coffin-Siris syndrome 7, MIM#618027

OMIM

601671

Clinvar variants

Variants in DPF2

Penetrance

None

Publications

Panels with this gene