{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:34:03Z","timestamp":1745469243142,"version":"3.40.4"},"reference-count":31,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Background:GNAS encodes the \u03b1 subunit of the stimulatory G protein (Gs\u03b1). Maternal inherited Gs\u03b1 mutations cause pseudohypoparathyroidism type Ia (PHP-Ia), associated with shortening of the 4th and 5th metacarpals. Aims: Here we investigated the Gs\u03b1 pathway in short patients with distinct shortening of the 4th and 5th metacarpals. Methods: In 571 children with short stature and 4 patients with PHP-Ia metacarpal bone lengths were measured. In identified patients we analysed the Gs\u03b1 protein function in platelets, performed GNAS sequencing, and epigenetic analysis of four significant differentially methylated regions. Results: In 51 patients (8.9%) shortening of the 4th and 5th metacarpals was more pronounced than their height deficit. No GNAS coding mutations were identified in 20 analysed patients, except in 2 PHP-Ia patients. Gs\u03b1 activity was reduced in all PHP-Ia patients and in 25% of the analysed patients. No significant methylation changes were identified. Conclusions: Our findings suggest that patients with short stature and distinct metacarpal bone shortening could be part of the wide variety of PHP\/PPHP, therefore it was worthwhile analysing the Gs\u03b1 protein function and GNAS gene in these patients in order to further elucidate the phenotype and genotype of Gs\u03b1 dysfunction.<\/jats:p>","DOI":"10.1159\/000356928","type":"journal-article","created":{"date-parts":[[2014,2,3]],"date-time":"2014-02-03T10:29:29Z","timestamp":1391423369000},"page":"196-203","source":"Crossref","is-referenced-by-count":0,"title":["Guanine Nucleotide-Binding Protein \u03b1 Subunit Hypofunction in Children with Short Stature and Disproportionate Shortening of the 4th and 5th Metacarpals"],"prefix":"10.1159","volume":"81","author":[{"given":"Ioana 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