Spondylo-ocular syndrome explained

Synonyms:	SOS^[1]

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.

History

This syndrome was first described by Schmidt et al in consanginous Iraqi family in 2001.^[3]

Notes and References

1. Web site: OMIM Entry - # 605822 - SPONDYLOOCULAR SYNDROME; SOS . omim.org . 25 June 2019.
2. 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
3. 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