Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing

2017 ◽  
Vol 21 (11) ◽  
pp. 681-685 ◽  
Author(s):  
Haonan Li ◽  
Peng Jin ◽  
Qian Hao ◽  
Wei Zhu ◽  
Xia Chen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
De Novo ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Next Generation ◽  
Heterozygous Deletion ◽  
Generation Sequencing ◽  
Sox10 Gene

scholarly journals Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

2020 ◽  
Vol 8 (3) ◽  
Author(s):  
Shumin Ren ◽  
Xiaojie Chen ◽  
Xiangdong Kong ◽  
Yibing Chen ◽  
Qinghua Wu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Next Generation ◽  
Novel Variants ◽  
Generation Sequencing

scholarly journals New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

2019 ◽  
Vol 2019 ◽  
pp. 1-12 ◽  
Author(s):  
Wu Li ◽  
Lingyun Mei ◽  
Hongsheng Chen ◽  
Xinzhang Cai ◽  
Yalan Liu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
De Novo ◽  
Waardenburg Syndrome ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Number Variation ◽  
First Time ◽  
Generation Sequencing

Background. Waardenburg syndrome (WS) is one of the most common forms of syndromic deafness with heterogeneity of loci and alleles and variable expressivity of clinical features. Methods. The technology of single-nucleotide variants (SNV) and copy number variation (CNV) detection was developed to investigate the genotype spectrum of WS in a Chinese population. Results. Ninety WS patients and 24 additional family members were recruited for the study. Fourteen mutations had not been previously reported, including c.808C>G, c.117C>A, c.152T>G, c.803G>T, c.793-3T >G, and c.801delT on PAX3; c.642_650delAAG on MITF; c.122G>T and c.127C>T on SOX10; c.230C>G and c.365C>T on SNAI2; and c.481A>G, c.1018C>G, and c.1015C>T on EDNRB. Three CNVs were de novo and first reported in our study. Five EDNRB variants were associated with WS type 1 in the heterozygous state for the first time, with a detection rate of 22.2%. Freckles occur only in WS type 2. Yellow hair, amblyopia, congenital ptosis, narrow palpebral fissures, and pigmentation spots are rare and unique symptoms in WS patients from China. Conclusions. EDNRB should be considered as another prevalent pathogenic gene in WS type 1. Our study expanded the genotype and phenotype spectrum of WS, and diagnostic next-generation sequencing is promising for WS.

De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II

2014 ◽  
Vol 78 (6) ◽  
pp. 926-929 ◽  
Author(s):  
Kaitian Chen ◽  
Ling Zong ◽  
Min Liu ◽  
Yuan Zhan ◽  
Xuan Wu ◽  
...  
Keyword(s):  
De Novo ◽  
Chinese Family ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Dominant Mutation ◽  
Sox10 Gene

scholarly journals Next‐generation sequencing in two cases of de novo acute basophilic leukaemia

2021 ◽  
Author(s):  
Takuya Shimizu ◽  
Tadakazu Kondo ◽  
Yasuhito Nannya ◽  
Mizuki Watanabe ◽  
Toshio Kitawaki ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
De Novo ◽  
Next Generation ◽  
Generation Sequencing

Molecular marker information from de novo assembled transcriptomes of chilli pepper (Capsicum annuum L.) varieties based on next-generation sequencing technology

2014 ◽  
Vol 12 (S1) ◽  
pp. S83-S86 ◽  
Author(s):  
Yul-Kyun Ahn ◽  
Swati Tripathi ◽  
Young-Il Cho ◽  
Jeong-Ho Kim ◽  
Hye-Eun Lee ◽  
...  
Keyword(s):  
Molecular Markers ◽  
Next Generation Sequencing ◽  
De Novo ◽  
Transcriptome Assembly ◽  
Sequence Variant ◽  
Nucleotide Polymorphisms ◽  
Next Generation ◽  
Chilli Pepper ◽  
Next Generation Sequencing Technology ◽  
Generation Sequencing

Next-generation sequencing technique has been known as a useful tool for de novo transcriptome assembly, functional annotation of genes and identification of molecular markers. This study was carried out to mine molecular markers from de novo assembled transcriptomes of four chilli pepper varieties, the highly pungent ‘Saengryeg 211’ and non-pungent ‘Saengryeg 213’ and variably pigmented ‘Mandarin’ and ‘Blackcluster’. Pyrosequencing of the complementary DNA library resulted in 361,671, 274,269, 279,221, and 316,357 raw reads, which were assembled in 23,607, 19,894, 18,340 and 20,357 contigs, for the four varieties, respectively. Detailed sequence variant analysis identified numerous potential single-nucleotide polymorphisms (SNPs) and simple sequence repeats (SSRs) for all the varieties for which the primers were designed. The transcriptome information and SNP/SSR markers generated in this study provide valuable resources for high-density molecular genetic mapping in chilli pepper and Quantitative trait loci analysis related to fruit qualities. These markers for pepper will be highly valuable for marker-assisted breeding and other genetic studies.

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