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Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.
Endocrine. 2009 Aug; 36(1):25-9.E

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.

Authors+Show Affiliations

Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-tong University School of Medicine, Shanghai, 200025, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19381884

Citation

Sun, Li-Hao, et al. "Identification of a Novel GNAS Mutation for Pseudohypoparathyroidism in a Chinese Family." Endocrine, vol. 36, no. 1, 2009, pp. 25-9.
Sun LH, Cui B, Zhao HY, et al. Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family. Endocrine. 2009;36(1):25-9.
Sun, L. H., Cui, B., Zhao, H. Y., Tao, B., Wang, W. Q., Li, X. Y., Ning, G., & Liu, J. M. (2009). Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family. Endocrine, 36(1), 25-9. https://doi.org/10.1007/s12020-009-9193-z
Sun LH, et al. Identification of a Novel GNAS Mutation for Pseudohypoparathyroidism in a Chinese Family. Endocrine. 2009;36(1):25-9. PubMed PMID: 19381884.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family. AU - Sun,Li-Hao, AU - Cui,Bin, AU - Zhao,Hong-Yan, AU - Tao,Bei, AU - Wang,Wei-Qing, AU - Li,Xiao-Ying, AU - Ning,Guang, AU - Liu,Jian-Min, Y1 - 2009/04/21/ PY - 2009/02/02/received PY - 2009/04/02/accepted PY - 2009/03/13/revised PY - 2009/4/22/entrez PY - 2009/4/22/pubmed PY - 2009/10/2/medline SP - 25 EP - 9 JF - Endocrine JO - Endocrine VL - 36 IS - 1 N2 - 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. SN - 1355-008X UR - https://www.unboundmedicine.com/medline/citation/19381884/Identification_of_a_novel_GNAS_mutation_for_pseudohypoparathyroidism_in_a_Chinese_family_ L2 - https://dx.doi.org/10.1007/s12020-009-9193-z DB - PRIME DP - Unbound Medicine ER -