Report of one case with de novo mutation in TLK2 and literature review

被引：0

作者：

Li, Han-Yue ^{[1
,2
]}

Jiang, Chun-Ming ^{[1
]}

Liu, Ruo-Yan ^{[2
]}

Zou, Chao-Chun ^{[2
]}

机构：

[1] Westlake Univ, Affiliated Hangzhou Peoples Hosp 1, Sch Med, Dept Pediat, Hangzhou, Peoples R China

[2] Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Endocrinol,Sch Med, 3333 Binsheng Rd, Hangzhou 310052, Peoples R China

来源：

BMC PEDIATRICS | 2024年 / 24卷 / 01期

关键词：

Autism spectrum disorder; Language delay; TLK2; mutation; DISORDER;

D O I：

10.1186/s12887-024-05205-z

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases. Herein, we reported a 5-year-old boy with TLK2 heterozygous mutation who presented distinctive facial features, gastrointestinal diseases, short stature, language delay, autism spectrum disorder, heart diseases, abnormal genitourinary system and skeletal abnormality. Moreover, we reviewed previous reported patients and our case in order to investigate more information on genotype-phenotype correlation and identify significant clinical characteristics for better diagnosis.

引用

页数：5

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