Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

doi:10.1016/j.ajhg.2016.03.016

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Article

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

American journal of human genetics - 7 Apr 2016

Bhoj Elizabeth J, Li Dong, Harr Margaret, Edvardson Shimon, Elpeleg Orly, Chisholm Elizabeth, Juusola Jane, Douglas Ganka, Guillen Sacoto Maria J, Siquier-Pernet Karine, Saadi Abdelkrim, Bole-Feysot Christine, Nitschke Patrick, Narravula Alekhya, Walke Maria, Horner Michele B, Day-Salvatore Debra-Lynn, Jayakar Parul, Vergano Samantha A Schrier, Tarnopolsky Mark A, Hegde Madhuri, Colleaux Laurence, Crino Peter, Hakonarson Hakon

Abstract excerpt

Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were identified through whole-exome sequencing. All affected individuals were found to share a core phenotype of intellectual disability and hypotonia, and many had seizures and showed brain atrophy and white-matter changes on...

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PMID: 27040691
DOI: 10.1016/j.ajhg.2016.03.016
PMCID: PMC4833465

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TBCK

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