Abstract:
:Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity of the alpha subunit of the signal transducing protein, Gs, and heterozygous deactivating mutations have been shown in the Gs alpha gene. Because of additional overlapping clinical and radiological features it has been suggested that acrodysostosis and AHO represent poles of a single diagnostic spectrum. We have measured Gs alpha bioactivity in two unrelated patients with a clinical diagnosis of acrodysostosis and found both to be normal. Mutation analysis of the Gs alpha gene showed no sequence variation in 12 of the 13 exons examined. These results indicate that, at least in a proportion of patients with acrodysostosis, the condition is aetiologically distinct from AHO.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Wilson LC,Oude Luttikhuis ME,Baraitser M,Kingston HM,Trembath RCdoi
10.1136/jmg.34.2.133subject
Has Abstractpub_date
1997-02-01 00:00:00pages
133-6issue
2eissn
0022-2593issn
1468-6244journal_volume
34pub_type
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:
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