Spondyloocular syndrome

Definition:

Spondyloocular syndrome (SOS) is a rare autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes one of the xylosyltransferases involved in proteoglycan biosynthesis. The affected individuals were found to produce lower amount of chondroitin and heparan sulfate. Clinically, the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondyly.

References:

[1]. Craig F Munns, et al. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet. 2015 Jun 4;96(6):971-8. [Content Brief]

[2]. Fulya Taylan, et al. Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. J Bone Miner Res. 2016 Aug;31(8):1577-85. [Content Brief]

[3]. Gunther Rudolph, et al. Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly. Am J Ophthalmol. 2003 May;135(5):681-7. [Content Brief]

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