IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
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ABSTRACT:
SUBMITTER: Shoubridge C
PROVIDER: S-EPMC9325495 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
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IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Shoubridge Cheryl C Dudding-Byth Tracy T Pasquier Laurent L Goel Himanshu H Yap Patrick P McConnell Vivienne V
Clinical genetics 20220406 1
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 and speech and variable seizures. We describe the phenotypic spectrum associated wi ...[more]
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