@article{872063a58071477ba8cbedaa5c63e474,
title = "Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity",
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.",
keywords = "Anisometropia, Myopia, Obesity, Precision medicine, SLIT2, Structural modeling",
author = "Liu, {Katherine Y.} and Sengillo, {Jesse D.} and Gabriel Velez and Ruben Jauregui and Sakai, {Lynn Y.} and Maumenee, {Irene H.} and Bassuk, {Alexander G.} and Mahajan, {Vinit B.} and Tsang, {Stephen H.}",
note = "Funding Information: Supported, in part, by grants from National Eye Institute, NIH [P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437, R24EY019861], National Cancer Institute Core [5P30CA013696], the Research to Prevent Blindness (RPB) Physician-Scientist Award, unrestricted funds from RPB, New York, NY, USA. J.D.S is supported by the RPB Medical Student Eye Research Fellowship. S.H.T. is a member of the RD-CURE Consortium and is supported by the Tistou and Charlotte Kerstan Foundation and the Schneeweiss Stem Cell Fund, New York State [C029572]. VBM and AGB are supported by NIH grants [R01EY026682, R01EY024665, R01EY025225, R01EY024698 and R21AG050437], The Doris Duke Charitable Foundation Grant #2013103, and Research to Prevent Blindness (RPB), New York, NY. GV is supported by NIH grants [F30EYE027986 and T32GM007337]. Publisher Copyright: {\textcopyright} 2018 The Author(s).",
year = "2018",
month = aug,
day = "15",
doi = "10.1186/s13023-018-0885-4",
language = "English (US)",
volume = "13",
journal = "Orphanet journal of rare diseases",
issn = "1750-1172",
publisher = "BioMed Central",
number = "1",
}