ArticleMolecular vision2010
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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Who cites it
75 citing papers in PubMed, 95 citations in OpenAlex.
- SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.Molecular biology reports · 2021Trial
- EPHA2 sequence variants are associated with susceptibility to Kaposi's sarcoma-associated herpesvirus infection and Kaposi's sarcoma prevalence in HIV-infected patients.Cancer epidemiology · 2018Trial
- Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.Human genetics · 2013Trial
- Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.PloS one · 2013Trial
- Trial
- Receptor tyrosine kinase signaling in mammalian eye development.Developmental biology · 2026Review
- Frequent EPHA2 receptor mutations in cholangiocarcinoma disrupt receptor forward signaling supporting a tumor suppressor role.Biochimica et biophysica acta. Molecular cell research · 2026Article
- Article
- Spatial-temporal comparison of Eph/Ephrin gene expression in ocular lenses from aging and knockout mice.Frontiers in ophthalmology · 2024Article
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- Article
- Article
- Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.Molecular genetics & genomic medicine · 2022Article
- EphA2 Affects Development of the Eye Lens Nucleus and the Gradient of Refractive Index.Investigative ophthalmology & visual science · 2022Article
- Article
- A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family.Disease markers · 2022Article
- Article
- Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and Homeostasis.Frontiers in cell and developmental biology · 2022Review
- Biallelic Variants inInternational journal of molecular sciences · 2021Article
- Genotype, Age, Genetic Background, and Sex Influence Epha2-Related Cataract Development in Mice.Investigative ophthalmology & visual science · 2021Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family.
methodsAll affected individuals underwent a detailed ophthalmological and clinical examination. Blood samples were collected and genomic DNAs were extracted. A genome-wide scan was performed with polymorphic microsatellite markers. Logarithm of odds (LOD) scores were calculated, and Eph-receptor type-A2 (EPHA2), residing in the critical interval, was sequenced bidirectionally.
resultsThe clinical and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Genome-wide linkage analyses localized the critical interval to a 20.78 cM (15.08 Mb) interval on chromosome 1p, with a maximum two-point LOD score of 5.21 at theta=0. Sequencing of EPHA2 residing in the critical interval identified a missense mutation: c.2353G>A, which results in an alanine to threonine substitution (p.A785T).
conclusionsHere, we report for the first time a missense mutation in EPHA2 associated with autosomal recessive congenital cataracts.
Indexed as
Identifiers
20361013PMC2846848W2097704237What OpenQuestion holds
Registered trials
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.