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01-01-2021 | Tuberous Sclerosis | Original Article

A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex

Authors: Mei-hua Yang, Zhong-ke Wang, Yi Huang, Sheng-qing Lv, Chun-qing Zhang, Yuan-yuan Zhu, Qing-wu Yang, Shi-yong Liu

Published in: Child's Nervous System | Issue 1/2021

Abstract

Purpose

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems. The TSC1 and TSC2 genes have been identified as the genetic basis of TSC. Two gene tests were used for definitive genetic diagnosis.

Methods

In our study, the case of a Chinese pediatric patient with seizures, hypomelanotic macules, hyperpigmented patches, multiple parenchymal lesions in the ventricle, and developmental retardation is detailed. Whole-genome sequencing (WGS) and multiplex ligation-dependent probe amplification (MLPA) were employed to detect genetic variations and copy number variations of TSC1 and TSC2.

Results

A novel heterozygous nonsense mutation in the TSC2 gene (c.3751A>T, p.Lys1251Ter) was identified in a Chinese pediatric patient suffering from TSC, whose unaffected parents did not carry this mutation. The mutation was classified as “pathogenic” according to the American College of Medical Genetics (ACMG) guidelines.

Conclusion

WGS was carried out to definitively diagnose and detect variations in the exon and noncoding region of the gene and copy number variations in the whole genome simultaneously. For diseases with complex genetic mechanisms, WGS as the first-line test can be efficient and cost-effective for clinical diagnosis.

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Title: A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex
Authors: Mei-hua Yang
Zhong-ke Wang
Yi Huang
Sheng-qing Lv
Chun-qing Zhang
Yuan-yuan Zhu
Qing-wu Yang
Shi-yong Liu
Publication date: 01-01-2021
Publisher: Springer Berlin Heidelberg
Keyword: Tuberous Sclerosis
Published in: Child's Nervous System / Issue 1/2021
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-020-04702-7

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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