Molecular characteristics
TNIK (TRAF2- And NCK-Interacting Kinase) gene is located at 3q26.2-q26.3 and encodes a serine/threonine kinase that activates Wnt signalling pathway and stabilizes the cytoskeleton. TNIK also plays a role in brain development, synapse transmission, and dendrite growth.
Mutations and pathophysiology
Mutations in TNIK cause autosomal recessive non-syndromic form of intellectual disability.
Anazi et al. (2016) reported homozygosity for c.538C>T mutation in TNIK (NM_001161563) leading to p.Arg180*. The affected patients came from 2 unrelated consanguineous Saudi families and presented with non-syndromic intellectual disability.