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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1419027

A novel TLK2 variant with neuropsychiatric phenotype from a Chinese family

Provisionally accepted
HONGMEI HUANG HONGMEI HUANG *Yue Qian Yue Qian Chenlu Yang Chenlu Yang Shijie Li Shijie Li
  • Beijing Children’s Hospital, Capital Medical University, Beijing, Beijing Municipality, China

The final, formatted version of the article will be published soon.

    Background: Tousled-like kinase 2 (TLK2) gene variants related neurodevelopmental disorder was recently described. The haploinsufficiency of TLK2 was considered as the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. So far, only four studies, 49 patients from North America and Europe have been reported.In this study, we reported a Chinese family with TLK2-related neuropsychiatric phenotype. The proband, a two years and six months old boy presented with temper tantrums, mood lability, aggressiveness, congenital astigmatism and distinctive facial dysmorphism. Whole exome sequencing identified a novel heterozygous variation of TLK2 gene (c.49dupG, p.E17Gfs*10) in them. His father carried the same TLK2 gene variant, and exhibited anxiety and irritability. The parental grandparents and other family members had no such variation. Moreover, the proband was found to have global developmental delay, autism-like symptom and mild elevated homo-vanillic acid (HVA) and 2,3-dihydroxy-2-methylbutyric acid level tested in urine.Conclusions: Herein, we identified a novel TLK2 variant from a Chinese family and reported a new neuropsychiatric phenotype. This study also expanded the genotype profile of the newly defined TLK2-related neurodevelopmental disorder.

    Keywords: TLK2 gene, Behavior disorder, neurodevelopmental disorder, case report, heterozygous variant

    Received: 22 Apr 2024; Accepted: 10 Jul 2024.

    Copyright: © 2024 HUANG, Qian, Yang and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: HONGMEI HUANG, Beijing Children’s Hospital, Capital Medical University, Beijing, 100045, Beijing Municipality, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.