Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity | Orphanet Journal of Rare Diseases | Full Text

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

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

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

Orphanet Journal of Rare Diseases201813:138

https://doi.org/10.1186/s13023-018-0885-4

©  The Author(s). 2018

• Received: 3 October 2017
• Accepted: 31 July 2018
• Published: 15 August 2018

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

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