RT Journal Article SR Electronic T1 Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 133 OP 136 DO 10.1136/jmg.34.2.133 VO 34 IS 2 A1 L C Wilson A1 M E Oude Luttikhuis A1 M Baraitser A1 H M Kingston A1 R C Trembath YR 1997 UL http://jmg.bmj.com/content/34/2/133.abstract AB 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.