Malformations of cortical development

Gene: DLGAP4

Red List (low evidence)

Comment on publications: PMID:35585091 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.

Created: 26 Mar 2025, 5 p.m. | Last Modified: 26 Mar 2025, 5 p.m.

Panel Version: 7.3

PMID: 35585091 (2022) - patient with a de novo variant in DLGAP4 gene was identified (family P616; c.2714_2715insCAGCTGG, N905Qfs). Clinical presentation included extensive subependymal heterotopia, cerebral paralysis, GDD (without ID), spastic diplegia. In an additional family (P477), heterozygous variants were also observed in twins - a paternally inherited missense variant in DLGAP4 (c.2893T>G, p.Ser965Ala) and maternally inherited missense variant in DLGAP1 (c.1397A>G, p.Asp466Gly). The twins presented with DD and parieto-occipital pachygyria.

Functional studies show that DLGAP4 plays a role in maintaining the progenitor pool, regulating neurogenesis and neuronal migration.

Overall more evidence is required before drawing conclusions about the role of DLGAP4 in human disease.
Sources: Literature

Created: 26 Mar 2025, 5 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 35585091