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

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 intellectu...

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Bibliographic Details
Published in:Journal of the Pakistan Medical Association 2023-10, Vol.73 (10), p.2083-2085
Main Authors: Prem Chand, Sulaiman, Asna, Kirmani, Salman
Format: Article
Language:English
Subjects:
Diagnosis
Gene mutation
Gene mutations
Genetic aspects
Health aspects
Identification and classification
Infantile hypotonia
Intellectual disability
Mental retardation
Muscle hypotonia
Pediatric research
Protein kinases
Risk factors
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Description
Summary: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.
ISSN:0030-9982
DOI:10.47391/JPMA.6733