Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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11 authors.
Zainab AkhtarDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Sumaira AltafDepartment of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi 46000, Pakistan.
Yumei LiDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA.
Sana BibiDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Jamal ShahDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Kiran AfshanDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.ORCID 0000-0002-3979-7606
Meng WangDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA.ORCID 0000-0003-2742-3559
Hafiz Muhammad Jafar HussainDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-5269-8971
Nadeem QureshiDepartment of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi 46000, Pakistan.
Rui ChenDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA.ORCID 0000-0002-4387-9735
Sabika FirasatDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.ORCID 0000-0003-4959-7832
Funding
Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI John Peter Campbell · 1995 to 2026
$19.4M
VISION RESEARCH CENTERP30EY002520 · NEI · BAYLOR COLLEGE OF MEDICINE · PI Samuel M Wu · 1985 to 2026
$14.8M
MEASURES OF HUMAN RECEPTOR AND POST RECEPTOR ACTIVITYR01EY009076 · NEI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI BIRCH, DAVID G, HOOD, DONALD C. · 1991 to 2021
$8.3M
GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
NEI UCI Center Core Grant for Vision ResearchP30EY034070 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Vladimir Jivkov Kefalov · 2022 to 2026
$3.7M
Antisense therapy for the treatment of visual loss in Usher syndromeR01EY030499 · NEI · LSU HEALTH SCIENCES CENTER · PI KOENEKOOP, ROBERT, LENTZ, JENNIFER JEAN · 2019 to 2023
$1.7M
High Throughput Genomic Sequencer at BCM Core FacilityS10OD023469 · OD · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2017 to 2017
backgroundLeber congenital amaurosis (LCA) is a congenital onset severe form of inherited retinal dystrophy (IRD) and a common cause of pediatric blindness. Disease-causing variants in at least 14 genes are reported to predispose LCA phenotype. LCA is inherited as an autosomal recessive disease. It can be an isolated eye disorder or as part of a syndrome, such as Senior Loken or Joubert syndrome. Sequencing studies from consanguineous populations have proven useful for novel variants identification; thus, the present study aimed to explore the genetic heterogeneity of 15 consanguineous Pakistani families, each segregating a severe IRD phenotype using targeted next generation sequencing.
methodsThis study enrolled 15 consanguineous families, each with multiple affected cases of retinal dystrophy phenotype. DNA was extracted from blood samples. Targeted panel sequencing of 344 known genes for IRDs was performed, followed by Sanger sequencing for segregation analysis.
resultsData analysis revealed a total of eight reported (c.316C>T and c.506G>A in
conclusionComprehensive molecular diagnosis of 15 consanguineous Pakistani families led to the identification of a total of 5 novel variants contributing to genetic heterogeneity of LCA-associated genes and helped to provide genetic counseling to the affected families.
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.
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes. · full record | OpenQuestion