| H01496 | |
| H number | H01496 |
| Name | Spondyloocular syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06029(H01496) Glycosaminoglycan biosynthesis |
| Gene | XYLT2 [HSA:64132] [KO:K00771] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.KY ICD-10: Q87.5 MeSH: C565285 OMIM: 605822 |
| Reference | PMID:12719077 AUTHORS Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H TITLE Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly. JOURNAL Am J Ophthalmol 135:681-7 (2003) DOI:10.1016/S0002-9394(02)02155-4 PMID:26987875 AUTHORS Taylan F, Costantini A, Coles N, Pekkinen M, Heon E, Siklar Z, Berberoglu M, Kampe A, Kiykim E, Grigelioniene G, Tuysuz B, Makitie O TITLE Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. JOURNAL J Bone Miner Res 31:1577-85 (2016) DOI:10.1002/jbmr.2834 PMID:26027496 AUTHORS Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME TITLE Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. JOURNAL Am J Hum Genet 96:971-8 (2015) DOI:10.1016/j.ajhg.2015.04.017 |