Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients

2018 ◽  
Vol 96 (7) ◽  
pp. 701-712 ◽  
Author(s):  
Cong Lu ◽  
Li-Xi Li ◽  
Hai-Lin Dong ◽  
Qiao Wei ◽  
Zhi-Jun Liu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Hereditary Spastic Paraplegia ◽  
Chinese Patients ◽  
Next Generation ◽  
Spastic Paraplegia ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

2013 ◽  
Vol 260 (10) ◽  
pp. 2516-2522 ◽  
Author(s):  
Kishore R. Kumar ◽  
Nicholas F. Blair ◽  
Himesha Vandebona ◽  
Christina Liang ◽  
Karl Ng ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Hereditary Spastic Paraplegia ◽  
Next Generation ◽  
Spastic Paraplegia ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism

2018 ◽  
Vol 65 (10) ◽  
pp. 1019-1028 ◽  
Author(s):  
Wei Long ◽  
Guanting Lu ◽  
Wenbai Zhou ◽  
Yuqi Yang ◽  
Bin Zhang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Congenital Hypothyroidism ◽  
Chinese Patients ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lijuan Zhang ◽  
YuYe Shi ◽  
Yue Chen ◽  
Shandong Tao ◽  
Wenting Shi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Myelodysplastic Syndromes ◽  
Rna Splicing ◽  
Myeloproliferative Neoplasms ◽  
Chinese Patients ◽  
Newly Diagnosed ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Significant Difference ◽  
Generation Sequencing

Abstract Background Clonal hematopoiesis (CH) can be found in various myeloid neoplasms (MN), such as myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN), also in pre-MDS conditions. Methods Cytogenetics is an independent prognostic factor in MDS, and fluorescence in-situ hybridization (FISH) can be used as an adjunct to karyotype analysis. In the past 5 years, only 35 of 100 newly diagnosed MDS and MDS/MPN patients were identified abnormalities, who underwent the FISH panel. In addition, we examined a cohort of 51 cytopenic patients suspected MDS or MDS/MPN with a 20-gene next generation sequencing (NGS), including 35 newly diagnosed MN patients and 16 clonal cytopenias of undetermined significance (CCUS) patients. Results Compared with the CCUS group, the MN group had higher male ratio (22/13 vs 10/6), cytogenetics abnormalities rate (41.4% vs 21.4%) and frequency of a series of mutations, such as ASXL1 (28.6% vs 25%), U2AF1 (25.7% vs 25%), RUNX1 (20% vs 0.0%); also, higher adverse mutations proportion (75% vs 85.2%), and double or multiple mutations (54.3% vs 43.75%). There were 7 MN patients and 4 CCUS patients who experienced cardio-cerebrovascular embolism events demonstrated a significant difference between the two groups (25% vs 20%). Ten of the 11 patients had somatic mutations, half had DNA methylation, while the other half had RNA splicing. Additionally, six patients had disease transformation, and four patients had mutated U2AF1, including two CCUS cases and two MDS-EB cases. Following up to January 2021, there was no significant difference in over survival between the CCUS and MN groups. Conclusion NGS facilitates the diagnosis of unexplained cytopenias. The monitoring and management of CCUS is necessary, also cardio-cerebrovascular embolism events in patients with CH need attention in the clinical practice.

scholarly journals Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Neurogenetics ◽  
2019 ◽  
Vol 20 (1) ◽  
pp. 27-38 ◽  
Author(s):  
Ewelina Elert-Dobkowska ◽  
Iwona Stepniak ◽  
Wioletta Krysa ◽  
Karolina Ziora-Jakutowicz ◽  
Maria Rakowicz ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Hereditary Spastic Paraplegia ◽  
Next Generation ◽  
Spastic Paraplegia ◽  
Generation Sequencing
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