GenomeNet

Database: PubMed
Entry: 11746045
LinkDB: 11746045
Original site: 11746045 
PMID:
     11746045
Authors:
     Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.
Title:
     Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia
     congenita.
Journal:
     Am J Med Genet. 2001 Nov 22;104(2):140-6. doi: 10.1002/ajmg.10062.
Abstract:
     Pseudoachondroplasia (PSACH) and spondyloepiphyseal dysplasia congenita (SEDC)
     are autosomal dominant forms of short-limb short stature caused by mutations in
     genes that encode structural components of the cartilage extracellular matrix.
     PSACH results from mutations in the cartilage oligomeric matrix protein (COMP)
     gene, while SEDC is caused by mutations in the gene for type II procollagen
     (COL2A1). We report a child with a distinct skeletal dysplasia due to the
     combined phenotypes of PSACH and SEDC. The proband's mother had PSACH and his
     father had SEDC. The child was suspected of having both phenotypes on the basis
     of the severity of his clinical and radiographic findings, and this was confirmed
     by molecular analysis. The COMP gene mutation (C348R), while not previously
     published, is typical of those in PSACH patients, whereas the COL2A1 mutation
     (T1370M) is somewhat atypical, as it predicts an amino acid change within the
     carboxyl-terminal region of the protein. Both mutations segregated with their
     respective phenotypes within this family. The description and natural history of 
     the double heterozygote phenotype may be useful in counseling families regarding 
     risk and prognosis.

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