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- Title
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
- Authors
Cavalli, Anna; Caraffi, Stefano Giuseppe; Rizzi, Susanna; Trimarchi, Gabriele; Napoli, Manuela; Frattini, Daniele; Spagnoli, Carlotta; Garavelli, Livia; Fusco, Carlo
- Abstract
Background: Thousand and one amino-acid kinase 1 (TAOK1) encodes the MAP3K protein kinase TAO1, which has recently been displayed to be essential for neuronal maturation and cortical differentiation during early brain development. Heterozygous variants in TAOK1 have been reported in children with neurodevelopmental disorders, with or without macrocephaly, hypotonia and mild dysmorphic traits. Literature reports lack evidence of neuronal migration disorders in TAOK1 patients, although studies in animal models suggest this possibility. Case presentation: We provide a clinical description of a child with a neurodevelopmental disorder due to a novel TAOK1 truncating variant, whose brain magnetic resonance imaging displays periventricular nodular heterotopia. Conclusions: To our knowledge, this is the first report of a neuronal migration disorder in a patient with a TAOK1-related neurodevelopmental disorder, thus supporting the hypothesized pathogenic mechanisms of TAOK1 defects.
- Subjects
LITERATURE reviews; GENETIC variation; NEURAL development; MAGNETIC resonance imaging; PROTEIN kinases
- Publication
BMC Medical Genomics, 2024, Vol 17, Issue 1, p1
- ISSN
1755-8794
- Publication type
Article
- DOI
10.1186/s12920-024-01840-8