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A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex
- Source :
- Child's Nervous System. 37:253-257
- Publication Year :
- 2020
- Publisher :
- Springer Science and Business Media LLC, 2020.
-
Abstract
- 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. 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. 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. 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.
- Subjects :
- 0301 basic medicine
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
DNA Copy Number Variations
Nonsense mutation
Tuberous Sclerosis Complex 1 Protein
03 medical and health sciences
Tuberous sclerosis
0302 clinical medicine
Tuberous Sclerosis
Tuberous Sclerosis Complex 2 Protein
medicine
Humans
Multiplex ligation-dependent probe amplification
Copy-number variation
Child
Genetics
business.industry
General Medicine
medicine.disease
030104 developmental biology
medicine.anatomical_structure
Codon, Nonsense
Mutation
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Medical genetics
Neurology (clinical)
TSC1
TSC2
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14330350 and 02567040
- Volume :
- 37
- Database :
- OpenAIRE
- Journal :
- Child's Nervous System
- Accession number :
- edsair.doi.dedup.....7b97754eee2385f2ea3fb851aa186c2b