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Autosomal recessive developmental and epileptic encephalopathy 81 (DEE81) has been reported in a single neonate born to consanguineous parents who developed refractory focal seizures immediately after birth. Advanced genomic testing identified a homozygous nonsense variant in DMXL2, confirming the molecular diagnosis in this case (1 proband) (PMID:40180340).
No additional affected relatives with segregating DMXL2 variants have been described. Functional studies specific to the DEE81 phenotype are lacking, although prior work implicates DMXL2 in neuronal function in hearing loss models. Current evidence is limited to a single case report, underscoring the need for further characterization of DMXL2 loss-of-function in early neurodevelopment.
Key Take-home: Targeted DMXL2 sequencing should be considered in neonates with early-onset refractory seizures from consanguineous families to improve diagnostic yield.
Gene–Disease AssociationLimitedSingle proband with autosomal recessive DEE81 carrying homozygous nonsense DMXL2 variant (PMID:40180340). Genetic EvidenceLimitedOne unrelated proband; no additional segregation beyond carrier parents; homozygous nonsense variant implicates loss-of-function (PMID:40180340). Functional EvidenceLimitedNo DEE81-specific functional assays; existing DMXL2 studies address hearing loss phenotypes rather than early neurodevelopment. |