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Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
- Source :
- American Journal of Medical Genetics. 104:140-146
- Publication Year :
- 2001
- Publisher :
- Wiley, 2001.
-
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.
- Subjects :
- Male
Spondyloepiphyseal dysplasia
Proband
Heterozygote
DNA Mutational Analysis
Mutation, Missense
Cartilage Oligomeric Matrix Protein
Gene mutation
Osteochondrodysplasias
Achondroplasia
Pseudoachondroplasia
Diseases in Twins
medicine
Humans
Matrilin Proteins
Collagen Type II
Genetics (clinical)
Genes, Dominant
Glycoproteins
Genetics
Cartilage oligomeric matrix protein
Extracellular Matrix Proteins
biology
Hand
medicine.disease
Osteochondrodysplasia
Radiography
Phenotype
Child, Preschool
Spondyloepiphyseal dysplasia congenita
Mutation
biology.protein
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 104
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....f84c2d7fe07a8317d9f2c70449a307ff