RGD Reference Report - Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. - Rat Genome Database

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Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Authors: Melkoniemi, M  Brunner, HG  Manouvrier, S  Hennekam, R  Superti-Furga, A  Kaariainen, H  Pauli, RM  Van Essen, T  Warman, ML  Bonaventure, J  Miny, P  Ala-Kokko, L 
Citation: Melkoniemi M, etal., Am J Hum Genet. 2000 Feb;66(2):368-77.
RGD ID: 1600883
Pubmed: PMID:10677296   (View Abstract at PubMed)
PMCID: PMC1288089   (View Article at PubMed Central)
DOI: DOI:10.1086/302750   (Journal Full-text)

Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of the autosomal dominant disorders-Stickler and Marshall syndromes-but can be distinguished by disproportionately short limbs, severe hearing loss, and lack of ocular involvement. In one family with OSMED, a homozygous Gly-->Arg substitution has been described in COL11A2, which codes for the alpha2 chain of type XI collagen. We report seven further families with OSMED. All affected individuals had a remarkably similar phenotype: profound sensorineural hearing loss, skeletal dysplasia with limb shortening and large epiphyses, cleft palate, an extremely flat face, hypoplasia of the mandible, a short nose with anteverted nares, and a flat nasal bridge. We screened affected individuals for mutations in COL11A2 and found different mutations in each family. Individuals from four families, including three with consanguineous parents, were homozygous for mutations. Individuals from three other families, in whom parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mutations, 9 are predicted to cause premature termination of translation, and 1 is predicted to cause an in-frame deletion. We conclude that the OSMED phenotype is highly homogenous and results from homozygosity or compound heterozygosity for COL11A2 mutations, most of which are predicted to cause complete absence of alpha2(XI) chains.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
osteochondrodysplasia susceptibilityIAGP 1600883otospondylomegaepiphyseal dysplasia more ...RGD 
osteochondrodysplasia susceptibilityISOCOL11A2 (Homo sapiens)1600883; 1600883otospondylomegaepiphyseal dysplasia more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Col11a2  (collagen type XI alpha 2 chain)

Genes (Mus musculus)
Col11a2  (collagen, type XI, alpha 2)

Genes (Homo sapiens)
COL11A2  (collagen type XI alpha 2 chain)


Additional Information