Database: PubMedEntry: 11746045
Original site: 11746045
Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia
Am J Med Genet. 2001 Nov 22;104(2):140-6. doi: 10.1002/ajmg.10062.
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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