Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders

TBL1XR1 is a member of the WD40 repeat-containing gene family. Mutations of TBL1XR1 have been reported in neurodevelopmental disorders (NDDs). Although the phenotypes of some patients have been described in single studies, few studies have reviewed the genotype and phenotype relationships using a re...

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Published inJournal of molecular neuroscience Vol. 70; no. 12; pp. 2085 - 2092
Main Authors Quan, Yingting, Zhang, Qiumeng, Chen, Meilin, Wu, Huidan, Ou, Jianjun, Shen, Yidong, Li, Kuokuo, Xun, Guanglei, Zhao, Jingping, Hu, Zhengmao, Xia, Kun, Guo, Hui
Format Journal Article
LanguageEnglish
Published New York Springer US 01.12.2020
Springer Nature B.V
Subjects
Autism
Biomedical and Life Sciences
Biomedicine
Cell Biology
Disabilities
Disorders
Frameshift mutation
Genetic screening
Genotypes
Hypotonia
Intellectual disabilities
Microencephaly
Mutation
Neurochemistry
Neurodevelopmental disorders
Neurology
Neurosciences
Phenotypes
Proteomics
Genotype-phenotype correlation
Neurodevelopmental disorder
De novo mutation
Autism spectrum disorder
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Summary:TBL1XR1 is a member of the WD40 repeat-containing gene family. Mutations of TBL1XR1 have been reported in neurodevelopmental disorders (NDDs). Although the phenotypes of some patients have been described in single studies, few studies have reviewed the genotype and phenotype relationships using a relatively large cohort of patients with TBL1XR1 mutations. Herein, we report a new de novo frameshift mutation in TBL1XR1 (NM_024665.4, c.388_389delAC, p.T130Sfs*14) in a patient with autism spectrum disorder (ASD). To explore the correlations between genotypes and phenotypes for TBL1XR1 in NDDs, we manually curated and analyzed 38 variants and the associated phenotypes from 50 individuals with NDDs. TBL1XR1 mutations lead to a wide range of phenotypic defects. We conclude that the most common phenotypes associated with TBL1XR1 mutations were language and motor developmental delay, intellectual disabilities, facial deformity, hypotonia, and microcephaly. Our study provides a comprehensive spectrum of neurodevelopmental phenotypes caused by TBL1XR1 mutations, which is important for genetic diagnosis and precision clinical management.
ISSN:0895-8696
1559-1166
DOI:10.1007/s12031-020-01615-7