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Göteborgs universitets publikationer

Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.

Författare och institution:
Mihailo Vujic (-); Annika Bergman (Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik); Bertil Romanus (Institutionen för de kirurgiska disciplinerna, Avdelningen för ortopedi); Jan Wahlström (Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik); Tommy Martinsson (Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik)
Publicerad i:
International journal of molecular medicine, 13 ( 1 ) s. 47-52
Artikel, refereegranskad vetenskaplig
Sammanfattning (abstract):
Hereditary multiple exostoses (HME) is a well known autosomal dominant hereditary orthopedic disorder. Isolated exostoses, on the other hand, occur as sporadic events or as secondary post-traumatic sequel. The occurrence of solitary exostoses in individuals from pedigrees affected with HME may distort conclusions about carrier status and/or diagnosis. Both conditions are potentially malignant and both are associated with genetic alterations in either EXT1 or EXT2 genes. In this study, we present a seven-generation family from western Sweden consisting of 170 blood relatives, 38 of whom had multiple cartilaginous exostoses, while 8 had isolated exostoses. Linkage analysis aimed to discern one of the known EXT genes demonstrated linkage of the HME phenotype to the EXT2 gene. Subsequent mutation analysis revealed a novel mutation, nt112delAT, in this gene. All carriers of the detected mutation had multiple exostoses, indicating full penetrance. None of the pedigree members with isolated exostoses were carriers of the detected mutation. Two of the mutation carriers developed chondrosarcoma yielding a 5.2% risk of malignant development for this mutation. The detection of this mutation has enabled us to provide appropriate genetic counseling concerning this complex situation.
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
Aged, Cytogenetic Analysis, Exostoses, Multiple Hereditary, genetics, physiopathology, Female, Humans, Male, Middle Aged, N-Acetylglucosaminyltransferases, genetics, Neoplasms, physiopathology, Pedigree, Sequence Analysis, DNA, Sequence Deletion
Postens nummer:
Posten skapad:
2007-10-24 09:27
Posten ändrad:
2011-01-20 09:59

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