Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
Year: 2018
Type: article
Study design: Case Report
Abstract: BACKGROUND: SLIT2 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. METHODS: Case report. RESULTS: Here, 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. CONCLUSIONS: To the authors' knowledge, this is the first report of a SLIT2 variant in the context of these ocular findings.
Institutions: Stony Brook University, Reading Hospital, Columbia University, University of Iowa, Stanford University, Weill Cornell Medicine, Oregon Health & Science University, Shriners Hospitals for Children - Portland, Palo Alto Veterans Institute for Research, Columbia University Irving Medical Center
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,990
Awards: G1219496881, G1451183653, G1464126504, G1613370269, G1759986008, G2470750803, G2648776141, G3166965515, G4494920243, G5871560913, G65646747, Structure and Function of Calpain-5, G6902378652, G7118691020, G7166138462, G7447847753, G7688886258, G8386192849, G8415332196, G8506940855, G9000007078, G9000064950, G9000177890, G9000181298, G9000211799, G9000263503, G9000267115, G9000303479, Defining Barriers to Gene Therapy, Gene Editing and Silencing in Phototransduction, Cancer Center Support Grant
OpenAlex ID: W2885527433