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. 2005 Nov;118(2):175-8.
doi: 10.1007/s00439-005-0058-0. Epub 2005 Nov 15.

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia

Yoshinari Miyamoto  1 , Eiji Nakashima, Hisatada Hiraoka, Hirofumi Ohashi, Shiro Ikegawa
Affiliations

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia

Yoshinari Miyamoto et al. Hum Genet. 2005 Nov.

Abstract

Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a skeletal dysplasia characterized by severe sensorineural hearing loss, enlarged epiphyses and early onset of osteoarthritis. COL11A2 has been reported as a causative gene for OSMED. We have identified a novel COL2A1 mutation at a splice-acceptor site within intron 10 (c.709-2A>G) in an OSMED patient. This mutation caused the skipping of exon 11, and of exons 11 and 13. These exon-skipping events are presumed to cause an in-frame deletion of the triple helical region of the COL2A1 product. Thus, our findings highlight the genetic heterogeneity of OSMED and extend the phenotypic spectrum of type II collagenopathy, as well as confirming the overlap between type II and type XI collagenopathies.

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