Medicine:Spondylo-ocular syndrome
From HandWiki
| Spondylo-ocular syndrome | |
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| Other names | SOS[1] |
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| Spondylo-ocular syndrome is inherited in an autosomal recessive manner | |
Spondylo-ocular syndrome is a rare genetic disorder characterised by lesions in the eye and the spine.
Presentation
These can be divided into those affecting the eyes, spine and other areas:[2]
Genetics
This syndrome is caused by inactivating mutations in the xylosyltransferase (XYLT2) gene. It is inherited in an autosomal recessive manner.[citation needed]
Diagnosis
Treatment
History
This syndrome was first described by Schmidt et al in consanginous Iraqi family in 2001.[3]
References
- ↑ "OMIM Entry - # 605822 - SPONDYLOOCULAR SYNDROME; SOS". https://omim.org/entry/605822. Retrieved 25 June 2019.
- ↑ Munns CF, Fahiminiya S, Poudel N, Munteanu, MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME (2015)Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet 96: 971-978
- ↑ Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T (2001) Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguineous kindred - a possible new syndrome. Clin Genet 59: 99-105
External links
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