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Article

IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.

Clinical genetics - 1 Jul 2022

Shoubridge Cheryl, Dudding-Byth Tracy, Pasquier Laurent, Goel Himanshu, Yap Patrick, McConnell Vivienne

Abstract excerpt

Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense variant in the pleckstrin homology (PH) domain of the IQSEC2 protein. Male patients all present with moderate to profound intellectual disability, significant delays or absent language...

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Identifiers

PMID: 35347702
DOI: 10.1111/cge.14136
PMCID: PMC9325495

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