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Article

Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.

European journal of medical genetics - 1 Apr 2019

Zapata-Aldana Eugenio, Kim David Dongkyung, Remtulla Salma, Prasad Chitra, Nguyen Cam-Tu, Campbell Craig

Abstract excerpt

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...

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Source

Identifiers

PMID: 30103036
DOI: 10.1016/j.ejmg.2018.08.004

Genes

TBCK
MTOR

Variants

Provenance

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Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.PMID 30103036Read ↗

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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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.Semantic proximity Read ↗

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.Semantic proximity Read ↗

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

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