Paediatrics Publications
Title
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.
Document Type
Article
Publication Date
4-2019
Journal
European Journal of Medical Genetics
Volume
62
Issue
4
First Page
273
Last Page
277
URL with Digital Object Identifier
https://doi.org/10.1016/j.ejmg.2018.08.004
Abstract
Deleterious homozygous or compound heterozygous mutations in the TBCK (TBC1-domain-containing kinase) gene (implicated in the MTOR pathway) produce profound hypotonia, global developmental delay, facial dysmorphic features, and brain abnormalities. The disorder has been named "infantile hypotonia with psychomotor retardation and characteristic facies-3" (IHPRF3). Here we present two sisters with a novel mutation in TBCK (NM_001163435.2: c.753dup; p.(Lys252*)) who have this ultrarare disorder. We have reviewed the literature on the 33 previously reported cases to provide a characterization of this emerging phenotype. Pathogenic mutations in TBCK have a predominant involvement of the Central Nervous System with a progressive pattern, leading to the conclusion where pathogenic mutations of the said gene lead to a progressive neurodegenerative disease. This report adds novel mutation and features to this complex phenotype. Further investigation is required to understand the pathogenesis of TBCK.
