Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia

Authors

  • Prem Chand Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan
  • Asna Sulaiman Aga Khan University Hospital, Karachi, Pakistan
  • Salman Kirmani Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan

DOI:

https://doi.org/10.47391/JPMA.6733

Keywords:

Infantile hypotonia, Intellectual disability, Gene mutation

Abstract

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellectual disability, limb and craniofacial abnormalities. We present a case of TBCK mutation of the variant (p.Gln164*), present on Exon 6; this sequence change creates a premature translational stop signal (p.Gln164*) in TBCK, creating a disrupted protein leading to a loss of function. This variant has not yet been reported in genetic databases. We need to establish a better understanding of this disorder by reporting these novel genetic mutations so that these complex patients can be successfully managed by multidisciplinary teams.

Keywords: Infantile hypotonia, Intellectual disability, Gene mutation.

Published

2023-09-13

How to Cite

Prem Chand, Sulaiman, A., & Kirmani, S. (2023). Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia. Journal of the Pakistan Medical Association, 73(10), 2083–2085. https://doi.org/10.47391/JPMA.6733

Issue

Section

Case Report

Most read articles by the same author(s)