Infantile hypotonia with psychomotor retardation and characteristic facies-3 (OMIM 616900) is a severe autosomal recessive neurodevelopmental disorder caused by biallelic variants in the TBCK gene. Bhoj et al., 2016 reported 13 individuals from nine unrelated families with likely pathogenic biallelic variants in the TBCK gene; autism was observed in one of these individuals.
Molecular Function
This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Infantile hypotonia with psychomotor retardation a
