Abstract
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.
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All data needed to evaluate the conclusions in the paper are present in the paper. The data that support the findings of this study are available from the corresponding author upon reasonable request.
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We are grateful to the family who participated in this study.
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This work was supported by the National Natural Science Foundation of China (81330027, 81525007). H.G. was also supported by the China Hunan Provincial Science & Technology Department (2019RS2005), the Major Scientific and Technological Projects for collaborative prevention and control of birth defects in Hunan Province (2019SK1010) and Innovation-Driven Project of Central South University (2020CX042).
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Quan, Y., Zhang, Q., Chen, M. et al. Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders. J Mol Neurosci 70, 2085–2092 (2020). https://doi.org/10.1007/s12031-020-01615-7
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DOI: https://doi.org/10.1007/s12031-020-01615-7