Orphanet journal of rare diseases · 2018
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Liu Katherine Y, Sengillo Jesse D, Velez Gabriel, Jauregui Ruben, Sakai Lynn Y, Maumenee Irene H, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen H
Аннотация
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.
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.