A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
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.
Miyamoto
Yoshinari
Y
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Tokyo, 108-8639, Japan.
Nakashima
Eiji
E
Hiraoka
Hisatada
H
Ohashi
Hirofumi
H
Ikegawa
Shiro
S
D000328:Adult; D000595:Amino Acid Sequence; D024043:Collagen Type II / Q000235:genetics; D024161:Collagen Type XI / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology; D006801:Humans; D010003:Osteoarthritis / Q000235:genetics / Q000473:pathology; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D022821:RNA Splice Sites / Q000235:genetics*; D017384:Sequence Deletion
C499319:COL11A2 protein, human; C499177:COL2A1 protein, human; D024043:Collagen Type II; D024161:Collagen Type XI; D022821:RNA Splice Sites