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

Prem Chand, Asna Sulaiman, Salman Kirmani

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2083-2085
Number of pages3
JournalJournal of the Pakistan Medical Association
Volume73
Issue number10
DOIs
Publication statusPublished - Oct 2023

Keywords

  • Gene mutation
  • Infantile hypotonia
  • Intellectual disability

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