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

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

Molecular and Medical Genetics

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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.

Original language	English (US)
Article number	138
Journal	Orphanet journal of rare diseases
Volume	13
Issue number	1
DOIs	https://doi.org/10.1186/s13023-018-0885-4
State	Published - Aug 15 2018

Keywords

Anisometropia
Myopia
Obesity
Precision medicine
SLIT2
Structural modeling

ASJC Scopus subject areas

Genetics(clinical)
Pharmacology (medical)

Access to Document

10.1186/s13023-018-0885-4

Cite this

@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 = "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",

}

TY - JOUR

T1 - Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

AU - Liu, Katherine Y.

AU - Sengillo, Jesse D.

AU - Velez, Gabriel

AU - Jauregui, Ruben

AU - Sakai, Lynn Y.

AU - Maumenee, Irene H.

AU - Bassuk, Alexander G.

AU - Mahajan, Vinit B.

AU - Tsang, Stephen H.

PY - 2018/8/15

Y1 - 2018/8/15

N2 - 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.

AB - 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.

KW - Anisometropia

KW - Myopia

KW - Obesity

KW - Precision medicine

KW - SLIT2

KW - Structural modeling

UR - http://www.scopus.com/inward/record.url?scp=85051644312&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85051644312&partnerID=8YFLogxK

U2 - 10.1186/s13023-018-0885-4

DO - 10.1186/s13023-018-0885-4

M3 - Article

C2 - 30111362

AN - SCOPUS:85051644312

SN - 1750-1172

VL - 13

JO - Orphanet journal of rare diseases

JF - Orphanet journal of rare diseases

IS - 1

M1 - 138

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this