ArticleMolecular vision2014
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.BMC medical genomics · 2026Article
- Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.Human genome variation · 2025Article
- Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.Journal of human genetics · 2025Article
- Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families.Investigative ophthalmology & visual science · 2024Article
- A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.Journal of medical case reports · 2023Review
- NON-TRAUMATIC ECTOPIA LENTIS IN A PAEDIATRIC OPHTHALMOLOGY PRACTICE, IBADAN, NIGERIA.Annals of Ibadan postgraduate medicine · 2023Article
- Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
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- An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.Journal of human genetics · 2021Article
- Novel p.G1344E mutation inThe British journal of ophthalmology · 2021Article
- Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.Nature communications · 2020Article
- The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.Biomolecules · 2020Review
- Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.Eye (London, England) · 2020Article
- Surgical management of non-syndromic ectopia lentis.International journal of ophthalmology · 2020Article
- Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the spectrum and frequency of five candidate genes in Chinese patients with congenital ectopia lentis (EL).
methodsForty consecutive and unrelated congenital probands with EL were collected and underwent ocular, skeletal, and cardiovascular examinations. Sanger sequencing was used to analyze all of the coding and adjacent regions of five candidate genes: FBN1, ADAMTS10, ADAMTSL4, TGFBR2, and CBS. Mutation analysis was performed to evaluate the pathogenic variants and to identify the cause of congenital EL.
resultsThe FBN1 gene screen revealed 25 pathogenic variants in 34 of the 40 families with congenital EL, including three novel (c.1955G>T, c.2222delA, and c.4381T>C) and 22 known mutations. The ADAMTSL10 gene screen revealed a compound heterozygous variant (c.1586G>A and c.2485T>A) in a family with Weill-Marchesani syndrome (WMS). In the remaining five probands, no pathogenic variant was detected in any of the five screened genes.
conclusionsIn this study, we identified three novel and 22 known mutations in FBN1 in 34 of 40 EL families. The results expand the mutation spectrum of the FBN1 gene and suggest that FBN1 mutations may be the major cause of congenital EL in Chinese patients.
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Identifiers
25053872PMC4105116W1721514219What OpenQuestion holds
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