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; Stephen H Tsang

doi:10.1186/s13023-018-0885-4

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

Journal article

Open access

Peer reviewed

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 Tsang

Orphanet journal of rare diseases, Vol.13(1), pp.138-138

08/15/2018

DOI: 10.1186/s13023-018-0885-4

PMCID: PMC6094464

PMID: 30111362

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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.

Obesity

Anisometropia

Precision medicine

Structural modeling

Myopia

Research

SLIT2

Details

Title: Subtitle: Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
Creators: Katherine Y Liu - Stony Brook, NY USA
Jesse D Sengillo - New York, NY USA
Gabriel Velez - Palo Alto, CA USA
Ruben Jauregui - New York, NY USA
Lynn Y Sakai - Portland, USA
Irene H Maumenee - New York, NY USA
Alexander G Bassuk - Iowa City, IA USA
Vinit B Mahajan - Palo Alto, CA USA
Stephen H Tsang - Jonas Children’s Vision Care, and Bernard and Shirlee Brown Glaucoma Laboratory, New York, USA
Resource Type: Journal article
Publication Details: Orphanet journal of rare diseases, Vol.13(1), pp.138-138
DOI: 10.1186/s13023-018-0885-4
PMID: 30111362
PMCID: PMC6094464
NLM abbreviation: Orphanet J Rare Dis
ISSN: 1750-1172
eISSN: 1750-1172
Publisher: BioMed Central; London
Grant note: 2013103 / ; P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437, R24EY019861; R01EY026682, R01EY024665, R01EY025225, R01EY024698 and R21AG050437 / ; 5P30CA013696 / ; T32GM007337 and F30EYE027986 / ;
Language: English
Date published: 08/15/2018
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984070468002771

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