scholarly journals Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype

2016 ◽  
Vol 11 (6) ◽  
pp. 2247-2253 ◽  
Author(s):  
NIU LI ◽  
YU DING ◽  
TINGTING YU ◽  
JUAN LI ◽  
YONGNIAN SHEN ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chromosome 10 ◽  
Whole Exome ◽  
Uniparental Isodisomy ◽  
Causal Variants

scholarly journals Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis

2016 ◽  
Vol 68 (9) ◽  
pp. 2257-2262 ◽  
Author(s):  
Angel C. Y. Mak ◽  
Paul L. F. Tang ◽  
Clare Cleveland ◽  
Melanie H. Smith ◽  
M. Kari Connolly ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Causal Variants ◽  
Diffuse Cutaneous Systemic Sclerosis

scholarly journals Identification of potential causal variants for premature ovarian failure by whole exome sequencing

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Haengun Jin ◽  
JuWon Ahn ◽  
YoungJoon Park ◽  
JeongMin Sim ◽  
Han Sung Park ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Reproductive Age ◽  
Bioinformatics Analyses ◽  
Korean Patients ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Causal Variants

Abstract Background Premature ovarian failure (POF) is a highly heterogeneous disorder that occurs in 1% of women of reproductive age. Very few causative genes and variants contributing to POF have been detected, and the disease remains incompletely understood. In this study, we used whole exome sequencing (WES) to identify potential causal variants leading to POF. Methods WES was conducted to identify variants in 34 Korean patients with POF, alongside 10 normal controls. Detected variants were filtered using a range of characterized bioinformatics analyses, and the machine learning tools, CADD and VEST, were used to predict pathogenic variants that could cause disease. VarSome was used for a comprehensive interpretation of the variants. Potential causal variants finally screened by these analyses were confirmed using Sanger sequencing. Results We identified nine potential causative variants in genes previously associated with POF in 8 of 34 (24%) Korean patients by WES variant analysis. These potentially pathogenic variants included mutations in the MCM8, MCM9, and HFM1 genes, which are involved in homologous recombination, DNA repair, and meiosis, and are established as causing POF. Using a combination of CADD and VEST, 72 coding variants were also identified in 72 genes, including ADAMTSL1 and FER1L6, which have plausible functional links to POF. Conclusions WES is a useful tool to detect genetic variants that cause POF. Accumulation and systematic management of data from a number of WES studies in specialized groups of patients with POF (family data, severe case populations) are needed to better comprehend the genetic landscape underlying POF.

Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping

2020 ◽  
Vol 160 (6) ◽  
pp. 309-315
Author(s):  
Abdullah Sezer ◽  
Gülsüm Kayhan ◽  
Altuğ Koç ◽  
Mehmet A. Ergün ◽  
Ferda E. Perçin
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Uniparental Disomy ◽  
Homozygosity Mapping ◽  
Spastic Diplegia ◽  
Chromosome 2 ◽  
Whole Exome ◽  
Uniparental Isodisomy ◽  
Mapping Analysis ◽  
Warburg Micro Syndrome

Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly, cortical dysplasia, intellectual disability, ocular abnormalities, spastic diplegia, and microgenitalia. WARBM has 4 subtypes arising from pathogenic variants in 4 genes (RAB18, RAB3GAP1, RAB3GAP2, and TBC1D20). Here, we report on a patient with a homozygous pathogenic c.665delC (p.Pro222HisfsTer30) variant in the RAB3GAP1 gene identified by whole-exome sequencing (WES) analyses. Only his father was a heterozygous carrier, and homozygosity mapping analysis of the WES data revealed large loss-of-heterozygosity regions in both arms of chromosome 2, interpreted as uniparental isodisomy. This uniparental disomy pattern could be due to paternal meiosis I nondisjunction because of the preserved heterozygosity in the pericentromeric region. This report provides novel insights, including a rare form of UPD, usage of homozygosity mapping analysis for the evaluation of isodisomy, and the first reported case of WARBM1 as a result of uniparental isodisomy.

scholarly journals Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing

Oncotarget ◽  
2017 ◽  
Vol 8 (67) ◽  
pp. 111119-111129 ◽  
Author(s):  
Ying Li ◽  
Elaine Lai-Han Leung ◽  
Hudan Pan ◽  
Xiaojun Yao ◽  
Qingchun Huang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Causal Variants

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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