ArticleOrphanet journal of rare diseases2018
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.Journal of translational medicine · 2024Article
- Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study.Investigative ophthalmology & visual science · 2023Article
- Slit-Robo signalling establishes a Sphingosine-1-phosphate gradient to polarise fin mesenchyme.EMBO reports · 2022Article
- Investigation of candidate genes and mechanisms underlying obesity associated type 2 diabetes mellitus using bioinformatics analysis and screening of small drug molecules.BMC endocrine disorders · 2021Article
- Slit2 is a potential biomarker for renal impairment in systemic lupus erythematosus.Clinical and experimental medicine · 2021Article
- Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.American journal of ophthalmology · 2021Article
- Anisometropia in children: Current understanding and clinical implications.Taiwan journal of ophthalmologyReview
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundSLIT2 is a protein ligand for the Roundabout (ROBO) receptor and was found to play a major role in repulsive midline axon guidance in central nervous system development. Based on studies utilizing knockout models, it has been postulated that SLIT2 is important for preventing inappropriate axonal routing during mammalian optic chiasm development.
methodsCase report.
resultsHere, we report a case of congenital myopia, anisometropia, and obesity in a patient with a SLIT2 point mutation. Examination of the patient's skin biopsy revealed abnormalities in elastin and collagen fibrils that suggest an underlying connective tissue disorder. Structural modeling placed the novel mutation (p.D1407G) in the EGF-like domain 8 and was predicted to affect interactions with SLIT2 binding partners.
conclusionsTo the authors' knowledge, this is the first report of a SLIT2 variant in the context of these ocular findings.
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Registered trials
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