PMID: 9188673Jun 13, 1997Paper

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

American Journal of Medical Genetics
M A van SteenselH G Brunner

Abstract

We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to consanguineous parents. Clinical and roentgenographic findings are compatible with a diagnosis of oto-spondylo-megaepiphyseal dysplasia (OSMED). Histologic study of cartilage shows severe osteoarthritis, which may necessitate joint replacements in early adulthood. Ultrastructurally, collagen fibrils are increased in diameter and show aggregation. These findings have not been reported previously and may be diagnostic of OSMED. The affected sibs are homozygous for a COL11A2 missense mutation. We compare the clinical findings in our patients with a group of patients who have a dominantly inherited, non-ocular form of Stickler syndrome due to a COL11A2 splice-site mutation. Both syndromes include midface hypoplasia, epiphyseal dysplasia, and deafness, more pronounced in OSMED. Since mutations affecting the collagen XI genes can obviously result in a spectrum of phenotypes, we performed a literature-search using POSSUM, OSSUM, and the LDDB to identify conditions that might also be caused by mutations in one of the collagen XI genes. A number of conditions matched the search terms in all databases. Of these,...Continue Reading

Citations

Mar 24, 2000·The British Journal of Ophthalmology·A J RichardsM P Snead
May 24, 2006·Journal of the Association for Research in Otolaryngology : JARO·Theru A SivakumaranCynthia C Morton
Jul 20, 2006·Human Genomics·Marc A van Driel, Han G Brunner
Jan 7, 2011·International Journal of Pediatric Otorhinolaryngology·Suna Tokgöz-YılmazMustafa Tekin
May 14, 2010·Joint, Bone, Spine : Revue Du Rhumatisme·Tifenn Couchouron, Charles Masson
Mar 17, 2010·Trends in Genetics : TIG·Norann A Zaghloul, Nicholas Katsanis
May 29, 2016·Mutation Research. Reviews in Mutation Research·Hao DengLamei Yuan
Jan 6, 2007·Clinical Genetics·M Oti, H G Brunner
Mar 17, 2004·Osteoarthritis and Cartilage·R R RodriguezL C Bridgewater
Jun 29, 2004·Progress in Retinal and Eye Research·Tapio IhanamäkiEero Vuorio

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