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Previous Volume 346:1669-1671 May 23, 2002 Number 21 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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To the Editor: In their article in the January 10 issue, Shore et al. report that they identified heterozygous inactivating GNAS1 mutations in 13 of 18 probands in six families with progressive osseous heteroplasia (POH).¹ The defective allele in their cohort was inherited exclusively from the fathers, which led the authors to conclude that paternally inherited inactivating GNAS1 mutations cause POH. Mutations in GNAS1 may lead to a variable phenotype, and retrospective analyses provide evidence that hormone resistance is more likely to occur when the genetic defect is maternally inherited, as Jüppner points out in an accompanying editorial.²

However, we . . . [Full Text of this Article]

References

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• Linglart, A., Mahon, M. J., Kerachian, M. A., Berlach, D. M., Hendy, G. N., Juppner, H., Bastepe, M. (2006). Coding GNAS Mutations Leading to Hormone Resistance Impair in Vitro Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3',5'-Monophosphate Formation Mediated by Human XL{alpha}s. Endocrinology 147: 2253-2262 [Abstract] [Full Text]  
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