Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7

Frontiers in Neuroscience

Neuroscience

Xihan Wang¹  Cong Zhou¹  Jingqun Mai¹  Hongmei Zhu¹  Qinqin Xiang¹  Shanling Liu¹  Jing Wang¹ 

[1] Department of Medical Genetics, Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China;Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China;

关键词: microcephaly;    DYRK1A;    deletion mutation;    whole-exome sequencing;    intellectual developmental disorder 7;   

DOI  :  10.3389/fnins.2023.1174925

 received in 2023-02-27, accepted in 2023-05-03,  发布年份 2023

来源: Frontiers

【 摘 要 】

BackgroundIntellectual developmental disorder 7 (also named DYRK1A syndrome) is an autosomal dominant disease. The main clinical features of DYRK1A syndrome include intellectual disability, microcephaly, and developmental delay. This study aimed to identify pathogenic variants in a Chinese girl with developmental delay, impaired social interaction, and autistic behavior.Case presentationThe case was a 6-year-old girl. Clinical symptoms of the patient mainly included developmental delay, seizures, autistic behavior and impaired social interaction. The patient presented with microcephaly, bushy eyebrows, a short lingual frenum, binocular esotropia, bilateral valgus and external rotation, and walked with an abnormal gait. Using whole-exome sequencing, we identified a 9,424 bp de novo heterozygous deletion (containing coding exons 10, 11, and 12, and partial sequences of non-coding exon 12) in DYRK1A, which is responsible for DYRK1A syndrome. The DYRK1A variant is classified as pathogenic according to the criteria of the American College of Medical Genetics and Genomics.ConclusionsThe findings of this study augment the data regarding the pathogenic variants of DYRK1A and provide important information for molecular diagnosis.

【 授权许可】

Unknown   
Copyright © 2023 Zhou, Zhu, Xiang, Mai, Wang, Wang and Liu.