Abstract
Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by hormone resistance to receptors that stimulate adenylate cyclase. PHP-Ia patients show specific Gs-alpha protein deficiency, PTH/TSH/gonadotropin resistance, and a phenotype characterized by Albright hereditary osteodystrophy (AHO). Many heterozygous mutations in the GNAS gene encoding the Gs protein have been identified in PHP-Ia. We describe two boys with hypocalcemia and elevated serum levels of PTH in a Chinese family. The 13 exons of the GNAS gene were amplified using 15 pairs of GNAS-specific primers and analyzed by direct sequencing. We found a novel frame shift mutation in exon 11 of the GNAS gene identified in both of the two boys and their mother. This report provides another example of a Gs-alpha mutation leading to PHP.
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Sun, LH., Cui, B., Zhao, HY. et al. Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family. Endocr 36, 25–29 (2009). https://doi.org/10.1007/s12020-009-9193-z
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DOI: https://doi.org/10.1007/s12020-009-9193-z