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Article

Identification of a Novel TBCK Variation in an Azari Consanguineous Family With Psychomotor Developmental Disorder.

American journal of medical genetics. Part A - 1 Jun 2026

Arish Sara, Nobakht Ramiz, Mokabber Haleh, Nojedeh Somayeh Takrim, Davarnia Sana, Hasanzadeh Shirin, Kalhor Hourieh, Davarnia Behzad

Abstract excerpt

TBC1 domain-containing kinase (TBCK; MIM #616900) is implicated in autosomal recessive neurodevelopmental disorders with hypotonia and developmental delay. TBCK regulates mTOR signaling, lysosomal activity, and intracellular trafficking, but the full spectrum of pathogenic variants remains poorly understood. We investigated a consanguineous Iranian family with psychomotor delay. Whole exome sequencing (WES)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41603389
DOI: 10.1002/ajmga.70061

Genes

TBCK

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Identification of a Novel TBCK Variation in an Azari Consanguineous Family With Psychomotor Developmental Disorder.PMID 41603389Read ↗

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathySemantic proximity Read ↗

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Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?Semantic proximity Read ↗

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report.Semantic proximity Read ↗

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