Paediatrics Publications

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.

Find in your library

Share

COinS