Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome

2020 ◽  
Vol 70 (8) ◽  
pp. 1225-1228 ◽  
Author(s):  
Pankhuri Kaushik ◽  
Naresh Mahajan ◽  
Satish C. Girimaji ◽  
Arun Kumar
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Indian Family ◽  
Cohen Syndrome ◽  
Whole Exome

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family

2020 ◽  
Vol 42 (8) ◽  
pp. 587-593
Author(s):  
Jamil A. Hashmi ◽  
Fatima Fadhli ◽  
Ahmed Almatrafi ◽  
Sibtain Afzal ◽  
Khushnooda Ramzan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygosity Mapping ◽  
Cohen Syndrome ◽  
Whole Exome ◽  
Saudi Family ◽  
Exact Diagnosis

scholarly journals Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma

2021 ◽  
Vol 69 (9) ◽  
pp. 2461
Author(s):  
Periasamy Sundaresan ◽  
MohdHussain Shah ◽  
Manojkumar Kumaran ◽  
Prakash Chermakani ◽  
MohideenAbdul Kader ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Indian Family ◽  
Pathogenic Variants ◽  
South Indian ◽  
Whole Exome

scholarly journals Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

2021 ◽  
Vol Volume 14 ◽  
pp. 1583-1589
Author(s):  
Xiaoyun Hu ◽  
Tao Huang ◽  
Yun Liu ◽  
Lina Zhang ◽  
Li Zhu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chinese Patient ◽  
Cohen Syndrome ◽  
Whole Exome

A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome

2021 ◽  
Author(s):  
Mohammad Reza Karimzadeh ◽  
Fatemeh Omidi ◽  
Afsaneh Sahebalzamani ◽  
Kolsoum Saeidi
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Cohen Syndrome ◽  
Whole Exome ◽  
Iranian Patients

scholarly journals Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Manjunath Netravathi ◽  
Renu Kumari ◽  
Saketh Kapoor ◽  
Pushkar Dakle ◽  
Manish Kumar Dwivedi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Indian Family ◽  
Whole Exome

Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family

Gene ◽  
2022 ◽  
pp. 146158
Author(s):  
Souradip Chatterjee ◽  
Shashank Gupta ◽  
Vidya Nair Chaudhry ◽  
Prashaant Chaudhry ◽  
Ashim Mukherjee ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Macular Dystrophy ◽  
Site Mutation ◽  
Indian Family ◽  
Whole Exome

scholarly journals Whole Exome Sequencing identifies multiple pathogenic variants in a large south Indian family with Primary Open Angle Glaucoma

2020 ◽  
Author(s):  
Mohd Hussain Shah ◽  
Manojkumar Kumaran ◽  
Prakash Chermakani ◽  
Mohideen Abdul Kader ◽  
R. Ramakrishnan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Low Frequency ◽  
Open Angle ◽  
Indian Family ◽  
Pathogenic Variants ◽  
South Indian ◽  
Whole Exome

AbstractPurposeTo identify the pathogenic variants associated with POAG by using Whole Exome Sequencing (WES) data of a large South Indian family.MethodsWe recruited a large five generation of South Indian family (n=84) with positive family history of POAG. All study participants had comprehensive ocular evaluation (of the 84, 19 study subjects were diagnosed as POAG). Sanger sequencing of the candidate genes associated with POAG (MYOC, OPTN and TBK1) showed no genetic variation in the POAG affected family members. Therefore, we performed whole exome sequencing (WES) for 16 samples including (9 POAG and 7 unaffected controls) and the data was analysed using an in-house pipeline for prioritizing the pathogenic variants based on its segregation among the POAG individual.ResultsWe identified one novel and five low-frequency pathogenic variants with consistent co-segregation in all affected individuals. The variant c.G3719A in RPGR-interacting domain of RPGRIP1 that segregated heterozygously with the six POAG cases is distinct from variants causing photoreceptor dystrophies, reported to affect the RPGR protein complex signaling in primary cilia. The cilia in TM cells has been reported to mediate the intraocular pressure (IOP) sensation. Furthermore, we identified a novel c.A1295G variant in Rho guanine nucleotide exchange factors Gene 40 (ARHGEF40) and likely pathogenic variant in the RPGR gene, suggesting that they may alter the RhoA activity essential for IOP regulationConclusionOur study supports that low-frequency pathogenic variants in multiple genes and pathways probably affect the pathogenesis of Primary Open Angle Glaucoma in the large South Indian family.

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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