Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing

Next-generation sequencing (NGS) technology has led to great advances in understanding the causes of Mendelian and complex neurological diseases. Owing to the complexity of genetic diseases, the genetic factors contributing to many rare and common neurological diseases remain poorly understood. Selecting the correct genetic test based on cost-effectiveness, coverage area, and sequencing range can improve diagnosis, treatments, and prevention. Whole-exome sequencing and whole-genome sequencing are suitable methods for finding new mutations, and gene panels are suitable for exploring the roles of specific genes in neurogenetic diseases. Here, we provide an overview of the classifications, applications, advantages, and limitations of NGS in research on neurological diseases. We further provide examples of NGS-based explorations and insights of the genetic causes of neurogenetic diseases, including Charcot–Marie–Tooth disease, spinocerebellar ataxias, epilepsy, and multiple sclerosis. In addition, we focus on issues related to NGS-based analyses, including interpretations of variants of uncertain significance, de novo mutations, congenital genetic diseases with complex phenotypes, and single-molecule real-time approaches.

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Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation

Journal of Medical Genetics ◽

10.1136/jmedgenet-2014-102618 ◽

2014 ◽

Vol 52 (1) ◽

pp. 28-36 ◽

Cited By ~ 24

Author(s):

Chia-Ti Tsai ◽

Chia-Shan Hsieh ◽

Sheng-Nan Chang ◽

Eric Y Chuang ◽

Jyh-Ming Jimmy Juang ◽

...

Keyword(s):

Atrial Fibrillation ◽

Next Generation Sequencing ◽

Candidate Genes ◽

De Novo ◽

Next Generation ◽

De Novo Mutations ◽

Generation Sequencing

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Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report

Molecular Syndromology ◽

10.1159/000511971 ◽

2020 ◽

pp. 1-6

Author(s):

Selma Demir ◽

Hakan Gürkan ◽

Veysel Öz ◽

Sinem Yalçıntepe ◽

Emine İ. Atlı ◽

...

Keyword(s):

Intellectual Disability ◽

Next Generation Sequencing ◽

Growth Retardation ◽

De Novo ◽

Cornelia De Lange Syndrome ◽

Next Generation ◽

Autosomal Dominant Disorder ◽

Targeted Next Generation Sequencing ◽

Cornelia De Lange ◽

Generation Sequencing

Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with a variable clinical phenotype including synophrys, hypertelorism, thick eyebrows, long eyelashes, wide nasal bridge, long philtrum, hypertrichosis, growth retardation, and intellectual disability. Cornelia de Lange syndrome (CdLS) is a rare disease characterized by synophrys, long eyelashes, limb abnormalities, generalized hirsutism, growth retardation, and intellectual disability. In both WDSTS and CdLS, the malformations are due to transcriptome disturbance caused by defects in the genes encoding the components of chromatin regulation and transcription process. The overlapping features in these two syndromes may complicate the original diagnosis of a patient. Here, we report on a Wiedemann-Steiner patient found to have a de novo pathogenic <i>KMT2A</i> variation who had been clinically suspected as CdLS. We suggest that targeted next-generation sequencing is a feasible tool for the precise diagnosis of patients who have phenotypically and clinically overlapping features of CdLS and WDSTS.

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