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A null mutation in TNIK defines a novel locus for intellectual disability

Shams Anazi1, Hanan E Shamseldin1, Dhekra AlNaqeb2

  • 1Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Human Genetics
|April 24, 2016
PubMed
Summary

Genetic analysis identified a novel gene, TNIK, linked to autosomal recessive non-syndromic intellectual disability (ID). TNIK deficiency causes a loss of protein, consistent with previously observed murine models, strongly implicating it in human ID.

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