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000125990 0247_ $$2ISSN$$a1423-0046
000125990 0247_ $$2ISSN$$a1663-2818
000125990 0247_ $$2ISSN$$a1663-2826
000125990 037__ $$aDKFZ-2017-02105
000125990 041__ $$aeng
000125990 082__ $$a610
000125990 1001_ $$aInta, Ioana Monica$$b0
000125990 245__ $$aGuanine nucleotide-binding protein α subunit hypofunction in children with short stature and disproportionate shortening of the 4th and 5th metacarpals.
000125990 260__ $$aBasel$$bKarger$$c2014
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000125990 520__ $$aGNAS encodes the α subunit of the stimulatory G protein (Gsα). Maternal inherited Gsα mutations cause pseudohypoparathyroidism type Ia (PHP-Ia), associated with shortening of the 4th and 5th metacarpals.Here we investigated the Gsα pathway in short patients with distinct shortening of the 4th and 5th metacarpals.In 571 children with short stature and 4 patients with PHP-Ia metacarpal bone lengths were measured. In identified patients we analysed the Gsα protein function in platelets, performed GNAS sequencing, and epigenetic analysis of four significant differentially methylated regions.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. Gsα activity was reduced in all PHP-Ia patients and in 25% of the analysed patients. No significant methylation changes were identified.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 Gsα protein function and GNAS gene in these patients in order to further elucidate the phenotype and genotype of Gsα dysfunction.
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000125990 7001_ $$aChoukair, Daniela$$b1
000125990 7001_ $$0P:(DE-HGF)0$$aBender, Sebastian$$b2
000125990 7001_ $$aKneppo, Carolin$$b3
000125990 7001_ $$aKnauer-Fischer, Sabine$$b4
000125990 7001_ $$aMeyenburg, Kahina$$b5
000125990 7001_ $$aIvandic, Boris$$b6
000125990 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b7$$udkfz
000125990 7001_ $$aBettendorf, Markus$$b8
000125990 773__ $$0PERI:(DE-600)2540224-9$$a10.1159/000356928$$gVol. 81, no. 3, p. 196 - 203$$n3$$p196 - 203$$tHormone research in paediatrics$$v81$$x1663-2826$$y2014
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000125990 9141_ $$y2014
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