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Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
- Source :
- Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018), Orphanet Journal of Rare Diseases
- Publication Year :
- 2018
- Publisher :
- BMC, 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.
- Subjects :
- Male
0301 basic medicine
Connective Tissue Disorder
Pathology
medicine.medical_specialty
Adolescent
Mutation, Missense
Connective tissue
Optic chiasm
lcsh:Medicine
Nerve Tissue Proteins
Context (language use)
Anisometropia
03 medical and health sciences
Myopia
Humans
Missense mutation
Medicine
Pharmacology (medical)
Structural modeling
Obesity
Connective Tissue Diseases
Genetics (clinical)
Connective tissues
biology
business.industry
Research
Congenital myopia
SLIT2
Precision medicine
lcsh:R
General Medicine
Mutation (Biology)
medicine.disease
Ophthalmology
030104 developmental biology
medicine.anatomical_structure
biology.protein
Intercellular Signaling Peptides and Proteins
business
Elastin
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 13
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases
- Accession number :
- edsair.doi.dedup.....6f9b0d3d373e48a41e1b6f0977b7ad8e