Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.

Abstract excerpt

BACKGROUND: Tau-tubulin kinase 1 (TTBK1) is a neuron-enriched kinase implicated in τ phosphorylation and neurodegeneration. Human phenotypes associated with constitutional TTBK1 variants remain undefined. METHODS: Two siblings with a severe neurodevelopmental phenotype were assessed using quartet exome sequencing, segregation analysis and standardised clinical and neuroimaging evaluations. RESULTS: Both children...

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