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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2018

Open Access 01-12-2018 | Research

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

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

Published in: Orphanet Journal of Rare Diseases | Issue 1/2018

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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.
Appendix
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Metadata
Title
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
Authors
Katherine Y. Liu
Jesse D. Sengillo
Gabriel Velez
Ruben Jauregui
Lynn Y. Sakai
Irene H. Maumenee
Alexander G. Bassuk
Vinit B. Mahajan
Stephen H. Tsang
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2018
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-018-0885-4

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