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

IF 2 3区 医学 Q2 PEDIATRICS BMC Pediatrics Pub Date : 2024-11-13 DOI:10.1186/s12887-024-05205-z
Han-Yue Li, Chun-Ming Jiang, Ruo-Yan Liu, Chao-Chun Zou
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引用次数: 0

Abstract

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.

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报告一例 TLK2 基因新突变病例及文献综述。
TLK2变异影响大脑发育,已被确定为多种神经发育疾病的病因。TLK2变异的发病率较低,与其他罕见病具有共同的临床特征。在此,我们报告了一名患有 TLK2 杂合突变的 5 岁男童,他表现出独特的面部特征、胃肠道疾病、身材矮小、语言发育迟缓、自闭症谱系障碍、心脏疾病、泌尿生殖系统异常和骨骼异常。此外,我们还回顾了以往报道的患者和我们的病例,以研究基因型与表型相关性的更多信息,并找出重要的临床特征,以便更好地进行诊断。
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来源期刊
BMC Pediatrics
BMC Pediatrics PEDIATRICS-
CiteScore
3.70
自引率
4.20%
发文量
683
审稿时长
3-8 weeks
期刊介绍: BMC Pediatrics is an open access journal publishing peer-reviewed research articles in all aspects of health care in neonates, children and adolescents, as well as related molecular genetics, pathophysiology, and epidemiology.
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