ArticleMolecular vision2009
Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Association of 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.BMC ophthalmology · 2020Pooled it
- A Review of Current Concepts of the Etiology and Treatment of Myopia.Eye & contact lens · 2018Pooled it
- Analysis of risk factors associated with pre-myopia among primary school students in the Mianyang Science City.Journal of eye movement research · 2024Article
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- Article
- Pathogenesis and Prevention of Worsening Axial Elongation in Pathological Myopia.Clinical ophthalmology (Auckland, N.Z.) · 2020Review
- Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.BMC medical genetics · 2019Article
- Low prevalence of myopia among school children in rural China.BMC ophthalmology · 2018Article
- Exome Sequence Analysis of 14 Families With High Myopia.Investigative ophthalmology & visual science · 2017Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Association and interaction of myopia with SNP markers rs13382811 and rs6469937 atMolecular vision · 2017Article
- APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans.PLoS genetics · 2015Article
- Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.Genetic testing and molecular biomarkers · 2014Article
- Exome sequencing reveals CCDC111 mutation associated with high myopia.Human genetics · 2013Article
- Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.PLoS genetics · 2013Article
- Evaluation of MMP2 as a candidate gene for high myopia.Molecular vision · 2013Article
- Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia.Molecular vision · 2012Article
- High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.American journal of human genetics · 2011Article
- Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.Investigative ophthalmology & visual science · 2011Article
- An evidence-based update on myopia and interventions to retard its progression.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2011Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeA linkage study on autosomal recessive high myopia (arHM) has not been reported, although several loci for autosomal dominant high myopia (adHM) have been mapped. Data from a consanguineous Chinese family with arHM were collected to map the genetic locus associated with this condition.
methodsPhenotypic information and DNA samples were collected from family members. A genome-wide linkage scan combined with homozygosity mapping was performed by using 382 microsatellite DNA markers from the entire genome spaced at intervals of about 10 cM.
resultsThe pedigree and clinical data of the family indicate that the high myopia is autosomal recessive. A genome-wide scan of chromosomes 1-22 gave a LOD score greater than 1.0 for 22 markers. Linkage to most of these markers was not supported by closely flanking markers except for three possible loci on chromosomes 11, 14, and 17. Fine mapping and haplotype analysis provide evidence for a locus at 14q22.1-q24.2 in a 25.23 Mb region between markers D14S984 and D14S999 with a maximum LOD score of 2.19. All 11 microsatellite markers inside the linkage interval as well as haplotype construction point to a gene at this locus. Linkage elsewhere on chromosome 11 and chromosome 17 could not be excluded due to the small size of the family.
conclusionsPedigree and clinical data suggest that an autosomal recessive gene is responsible for high myopia in a consanguineous Chinese family. Genome-wide linkage analysis was used to map the gene for high myopia to a few limited loci. The resultant information should help future studies identify the gene for arHM. To our knowledge, this report is the first clinical and linkage study on a consanguineous family with arHM.
Indexed as
Identifiers
19204786PMC2635848W2108473718What 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.