RGD Reference Report - Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. - Rat Genome Database

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

Authors: Vikkula, M  Mariman, E C  Lui, V C  Zhidkova, N I  Tiller, G E  Goldring, M B  van Beersum, S E  de Waal Malefijt, M C  van den Hoogen, F H  Ropers, H H 
Citation: Vikkula M, etal., Cell. 1995 Feb 10;80(3):431-7.
RGD ID: 12904710
Pubmed: PMID:7859284   (View Abstract at PubMed)

Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site mutation resulting in "in-frame" exon skipping within the COL11A2 gene, encoding the alpha 2(XI) chain of the quantitatively minor fibrillar collagen XI. We also show that an autosomal recessive disorder with similar, but more severe, characteristics is linked to the COL11A2 locus and is caused by a glycine to arginine substitution in alpha 2(XI) collagen. The results suggest that mutations in collagen XI genes are associated with a spectrum of abnormalities in human skeletal development and support the conclusion of others, based on studies of murine chondrodysplasia, that collagen XI is essential for skeletal morphogenesis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
otospondylomegaepiphyseal dysplasia, autosomal dominant  IAGP 12904710DNA:splice-site mutation:intronRGD 
otospondylomegaepiphyseal dysplasia, autosomal dominant  ISOCOL11A2 (Homo sapiens)12904710; 12904710DNA:splice-site mutation:intronRGD 
otospondylomegaepiphyseal dysplasia, autosomal recessive  IAGP 12904710DNA:missense mutation:exon:p.G175R (human)RGD 
otospondylomegaepiphyseal dysplasia, autosomal recessive  ISOCOL11A2 (Homo sapiens)12904710; 12904710DNA:missense mutation:exon:p.G175R (human)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