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Article

Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.

American journal of medical genetics. Part A - 1 Oct 2023

Nair Divya, Diaz-Rosado Abdias, Varella-Branco Elisa, Ramos Igor, Black Aaron, Angireddy Rajesh, Park Joseph, Murali Svathi, Yoon Andrew, Ciesielski Brianna, O'Brien W Timothy, Passos-Bueno Maria Rita, Bhoj Elizabeth

Abstract excerpt

TBCK-related encephalopathy is a rare pediatric neurodegenerative disorder caused by biallelic loss-of-function variants in the TBCK gene. After receiving anecdotal reports of neurologic phenotypes in both human and mouse TBCK heterozygotes, we quantified if TBCK haploinsufficiency causes a phenotype in mice and humans. Using the tbck+/- mouse model, we performed a battery of behavioral assays and mTOR pathway...

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Identifiers

PMID: 37353954
DOI: 10.1002/ajmg.a.63320
PMCID: PMC10524953

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