ArticleAdvances in experimental medicine and biology2018
Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.
Pooja Biswas, Muhammad Asif Naeem, Muhammad Hassaan Ali, Muhammad Zaman Assir, Shaheen N Khan, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin, Radha Ayyagari
Article in Advances in experimental medicine and biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
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1citing papers in PubMed
0.4field-weighted citation impact, top 43% of its field
1 · What the graph read from it
What it found
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2 · The registry
The trial behind it
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3 · Its place in the literature
Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
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5 · Who and what money
Authors and funding
9 authors at 8 institutions in 2 countries.
Pooja BiswasShiley Eye Institute, University of California San Diego, La Jolla, CA, USA.
Muhammad Asif NaeemNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Muhammad Hassaan AliAllama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
Muhammad Zaman AssirAllama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
Shaheen N KhanNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Sheikh RiazuddinNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
J Fielding HejtmancikOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, USA.
S Amer RiazuddinDepartment of Ophthalmology, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA. riazuddin@ncemb.org.
Radha AyyagariShiley Eye Institute, University of California San Diego, La Jolla, CA, USA. rayyagari@ucsd.edu.
Centre of Excellence in Molecular Biology · PKAllama Iqbal Medical College · PKJohns Hopkins University · USNational Eye Institute · USShaheed Zulfiqar Ali Bhutto Institute of Science and Technology · PKSmith-Kettlewell Eye Research Institute · USUniversity of California, San Diego · USUniversity of Health Sciences Lahore · PK
Funding
Inherited Ocular DiseasesZIAEY000272 · NEI · NATIONAL EYE INSTITUTE · PI HEJTMANCIK, JAMES F. · 2009 to 2025
$27.0M
Rapid-Prototyping and Design CoreP30EY002162 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LAKKARAJU, APARNA · 1985 to 2024
$16.8M
Optics Instrumentation for Advanced Ophthalmic ImagingR01EY014375 · NEI · UNIVERSITY OF ROCHESTER · PI WILLIAMS, DAVID R · 2003 to 2012
$14.9M
Vision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Derek Stuart Welsbie · 2012 to 2026
$10.3M
Molecular Basis of Hereditary Retinal DegenerationsR01EY021237 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA · 2011 to 2020
$5.6M
INHERITED OCULAR DISEASESZ01EY000272 · NEI · NATIONAL EYE INSTITUTE · PI HEJTMANCIK, JAMES F. · 1991 to 2008
$4.8M
Molecular Mechanisms Underlying Macular DegenerationsR01EY013198 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI AYYAGARI, RADHA · 2001 to 2011
$4.0M
Endoplasmic Reticulum Stress in Retinal DegenerationR01EY020846 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI LIN, JONATHAN · 2010 to 2014
purposeTo identify the molecular basis of inherited retinal degeneration (IRD) in a familial case of Pakistani origin using whole-exome sequencing.
methodsA thorough ophthalmic examination was completed, and genomic DNA was extracted using standard protocols. Whole exome(s) were captured with Agilent V5 + UTRs probes and sequenced on Illumina HiSeq genome analyzer. The exomeSuite software was used to filter variants, and the candidate causal variants were prioritized, examining their allele frequency and PolyPhen2, SIFT, and MutationTaster predictions. Sanger dideoxy sequencing was performed to confirm the segregation with disease phenotype and absence in ethnicity-matched control chromosomes.
resultsOphthalmic examination confirmed retinal degeneration in all affected individuals that segregated as an autosomal recessive trait in the family. Whole-exome sequencing identified two homozygous missense variants: c.1304G > A; p.Arg435Gln in ZNF408 (NM_024741) and c.902G > A; p.Gly301Asp in C1QTNF4 (NM_031909). Both variants segregated with the retinal phenotype in the PKRD320 and were absent in ethnically matched control chromosomes.
conclusionWhole-exome sequencing coupled with bioinformatics analysis identified potential novel variants that might be responsible for IRD.
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. · full record | OpenQuestion