Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

Détails

ID Serval
serval:BIB_D1A9A84D34FA
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
Périodique
American Journal of Medical Genetics
Auteur(s)
Unger S., Korkko J., Krakow D., Lachman R.S., Rimoin D.L., Cohn D.H.
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Statut éditorial
Publié
Date de publication
2001
Volume
104
Numéro
2
Pages
140-146
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, U.S. Gov't, P.H.S.Publication Status: ppublish
Résumé
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.
Mots-clé
Achondroplasia/genetics, Achondroplasia/radiography, Cartilage Oligomeric Matrix Protein, Child, Preschool, Collagen Type II/genetics, DNA Mutational Analysis, Diseases in Twins, Extracellular Matrix Proteins/genetics, Genes, Dominant, Glycoproteins/genetics, Hand/radiography, Heterozygote, Humans, Male, Matrilin Proteins, Mutation, Mutation, Missense, Osteochondrodysplasias/genetics, Osteochondrodysplasias/radiography, Phenotype
Pubmed
Web of science
Création de la notice
20/06/2015 13:02
Dernière modification de la notice
03/03/2018 21:38
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