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Article

Expanding the Phenotype of TLK2-Related Neurodevelopmental Disorder: Longitudinal Presentation in Two Young Adult Females.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Sept 2026

Ivaniuk Alina, Kahn Eva, Lanpher Brendan, Muthusamy Karthik

Abstract excerpt

The TLK2 gene encodes a serine/threonine kinase essential for chromatin assembly. Loss-of-function heterozygous variants were recently identified as a cause of a rare neurodevelopmental disorder (TLK2-NDD) characterized by a variable spectrum of developmental delay, autism, behavioral issues, and severe constipation. We describe two unrelated young adult females presenting with neurodevelopmental delay,...

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Source

Identifiers

PMID: 41931014
DOI: 10.1002/ajmg.b.70016

Genes

TLK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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