scholarly journals Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

2014 ◽  
Vol 17 (4) ◽  
pp. 271-278 ◽  
Author(s):  
Xiu-Feng Huang ◽  
Fang Huang ◽  
Kun-Chao Wu ◽  
Juan Wu ◽  
Jie Chen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinal Dystrophy ◽  
Large Cohort ◽  
Mutation Spectrum ◽  
Next Generation ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Inherited Retinal Dystrophy ◽  
Generation Sequencing

scholarly journals Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

2015 ◽  
Vol 15 (10) ◽  
pp. 1269-1275 ◽  
Author(s):  
John (Pei-Wen) Chiang ◽  
Tina Lamey ◽  
Terri McLaren ◽  
Jennifer A Thompson ◽  
Hannah Montgomery ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinal Dystrophy ◽  
Next Generation ◽  
Inherited Retinal Dystrophy ◽  
Generation Sequencing

scholarly journals A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies

2016 ◽  
Vol 43 (S2) ◽  
pp. S7-S7
Author(s):  
SE Buerki ◽  
EB Toyota ◽  
I Guella ◽  
M McKenzie ◽  
D Evans ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Next Generation ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Whole Exome ◽  
Generation Sequencing

Background: Epileptic encephalopathy (EE) is a severe condition in which epileptic activity itself may contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. Next generation sequencing technologies such as whole exome sequencing (WES) can detect underlying genetic causes of in EE. Methods: This report describes genotype-phenotype correlation of 29 subjects with unexplained epileptic encephalopathy, in whom WES, targeting a list of 557 epilepsy-associated genes was performed. Epilepsy phenotyping was done according to current ILAE recommendations. Results: Median age at seizure onset was 14 months (range 1-48). Electroclinical syndromes were applicable for 16/29, 8/16 had a definite/likely diagnosis. 6/8 subjects with West syndrome had variants in ALG13, STXBP1, PAFAH1B1, SLC35A2, CDKL5 and ADSL. 2 patients with Dravet syndrome had variants in SCN1A and PCDH19 respectively. 4/29 had unspecified EE and definite/likely diagnosis due to STXBP1, POLG, and KCNQ2 (2) variants. 4/29 had a possible diagnosis involving GABRB3, ARHGEF9, PCDH19 and SCN3A variants. Conclusions: The high diagnostic yield (definite/likely diagnosis in 11/29 = 38%), involving a broad variety of epilepsy-associated genes in different electroclinical syndromes justifies the diagnostic approach of early onset EE by next generation sequencing.

Mutation spectrum and genotype‐phenotype correlation of inherited retinal dystrophy in Taiwan

2020 ◽  
Vol 48 (4) ◽  
pp. 486-499 ◽  
Author(s):  
Zhen‐Ji Chen ◽  
Keng‐Hung Lin ◽  
Shi‐Huang Lee ◽  
Ren‐Juan Shen ◽  
Zhuo‐Kun Feng ◽  
...  
Keyword(s):  
Retinal Dystrophy ◽  
Mutation Spectrum ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Inherited Retinal Dystrophy
Sign in / Sign up

Export Citation Format

Share Document