[Novel DYRK1A mutations in 2 individuals with autosomal dominant mental retardation-7]

X M Zou; H Xiao; H L He; S Q Guang; J Peng

doi:10.3760/cma.j.issn.0578-1310.2019.10.016

[Novel DYRK1A mutations in 2 individuals with autosomal dominant mental retardation-7]

Zhonghua Er Ke Za Zhi. 2019 Oct 2;57(10):804-806. doi: 10.3760/cma.j.issn.0578-1310.2019.10.016.

[Article in Chinese]

Authors

X M Zou¹, H Xiao, H L He, S Q Guang, J Peng

Affiliation

¹ Department of Pediatrics, Xiangya Hospital of Central South University, Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.

PMID: 31594070
DOI: 10.3760/cma.j.issn.0578-1310.2019.10.016

Abstract

例1女，7岁6月龄，因"癫痫、全面发育落后"就诊，基因检测结果显示患儿存在DYRK1A基因新生剪切位点突变（NM_001396.3：c.951+1G>A）。例2男，3岁11月龄，因"热性惊厥、智力障碍"就诊，基因检测结果显示DYRK1A基因框移突变（NM_001396.3：c.849dupC p.I284Hfs(*)4）。结合患儿的特殊面容、临床表现及分子遗传学结果，2例患儿均诊断为常染色体显性遗传性智力障碍7型。.

Publication types

Case Reports

MeSH terms

Asian People / genetics
Dyrk Kinases
Humans
Intellectual Disability / genetics*
Mutation
Protein Serine-Threonine Kinases / genetics*
Protein-Tyrosine Kinases / genetics*

Substances

Protein-Tyrosine Kinases
Protein Serine-Threonine Kinases