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Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

Liu, Katherine Y.; Sengillo, Jesse D.; Velez, Gabriel; Jauregui, Ruben; Sakai, Lynn Y.; Maumenee, Irene H.; Bassuk, Alexander G.; Mahajan, Vinit B.; Tsang, Stephen H.

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.

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Also Published In

Title
Orphanet Journal of Rare Diseases
DOI
https://doi.org/10.1186/s13023-018-0885-4

More About This Work

Academic Units
Ophthalmology
Pathology and Cell Biology
Published Here
October 4, 2018

Notes

SLIT2, Myopia, Anisometropia, Structural modeling, Precision medicine, Obesity

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