ISSN:
1435-232X
Keywords:
Key words Metaphyseal chondrodysplasia Schmid type (MCDS)
;
Mutation
;
Type X collagen gene (COL10A1)
;
Carboxyl-terminal noncollagenous (NC1) domain
;
Spondylometaphyseal dysplasia (SMD)
;
Type X collagenopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract Metaphyseal chondrodysplasia of the Schmid type (MCDS) is a skeletal dysplasia affecting the long bone metaphyses; it is characterized by short stature, bowlegs, and coxa vara. The spine is generally not involved. Here we report a novel missense mutation of the type X collagen gene in a sporadic case of MCDS. The mutation was a heterozygous single base-pair transition of G-to-A at nucleotide 1783, which predicted a substitution of glycine by arginine at codon 595 (G595R) in the carboxyl-terminal noncollagenous domain. Interestingly, another mutation of the same codon, in which glycine is substituted by glutamic acid (G595E), was previously reported to cause spondylometaphyseal dysplasia (SMD), another group of skeletal dysplasias with involvement of the spine in addition to the long tubular bones. The novel G595R mutation identified in the present study supports the concept of type X collagenopathy.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050024
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