A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

被引：0
作者：
Jianlong Zhuang
Meihua Xie
Jianfeng Yao
Wanyu Fu
Shuhong Zeng
Yuying Jiang
Yuanbai Wang
Yingjun Xie
Gaoxiong Wang
Chunnuan Chen
机构：
[1] Quanzhou Women’s and Children’s Hospital,Prenatal Diagnosis Center
[2] Yueyang Central Hospital,Prenatal Diagnosis Center
[3] Quanzhou Women’s and Children’s Hospital,Department of Women Healthcare
[4] Third Affiliated Hospital of Guangzhou Medical University,Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes
[5] Third Affiliated Hospital of Guangzhou Medical University,Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes
[6] Quanzhou Women’s and Children’s Hospital,Department of Neurology
[7] The Second Affiliated Hospital of Fujian Medical University,undefined
来源：
BMC Medical Genomics | / 16卷
关键词：
1q44 microdeletion; Chromosomal microarray analysis; Whole exome sequencing; Developmental delay; Seizures; Intellectual disability;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 119 条
[1]  
Zhao ZS(2005)PAK and other Rho-associated kinases—effectors with surprisingly diverse mechanisms of regulation Biochem J 386 201-214
[2]  
Manser E(2008)UnPAKing the class differences among p21-activated kinases Trends Biochem Sci 33 394-403
[3]  
Eswaran J(2017)Structure, biochemistry, and biology of PAK kinases Gene 605 20-31
[4]  
Soundararajan M(1998)PAK3 mutation in nonsyndromic X-linked mental retardation Nat Genet 20 25-30
[5]  
Kumar R(2019)P21 activated kinase signaling in cancer Semin Cancer Biol 54 40-49
[6]  
Knapp S(2018)Activating mutations in PAK1, encoding p21-activated kinase 1, cause a neurodevelopmental disorder Am J Hum Genet 103 579-591
[7]  
Kumar R(2005)Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype Am J Med Genet A 135 91-95
[8]  
Sanawar R(1992)Distal deletion of the long arm of chromosome number 1 (q43–>qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome Ann Genet 35 167-169
[9]  
Li X(2007)Delineation of the cryptic 1qter deletion phenotype Am J Med Genet A 143A 599-603
[10]  
Li F(2012)Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44 Eur J Hum Genet 20 176-179
12345678910