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A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
Exp Clin Endocrinol Diabetes. 2010 Oct; 118(9):586-90.EC

Abstract

Albright's hereditary osteodystrophy (AHO) is an inherited disorder and results from heterozygous loss of function mutation within the human G (s)α gene (GNAS1). AHO appears in two phenotypes, that may occur within the same family. Pseudohypoparathyroidism type Ia (PHP Ia) comprises the clinical features of AHO associated with parathyroid hormone (PTH) resistance while pseudo-pseudohypoparathyroidism (PPHP) includes AHO features without PTH resistance. In the present study we report a mother and a daughter with PPHP and PHP Ia respectively. The 13 exons of GNAS1 were analysed by PCR and direct sequencing. We identified a heterozygous missense mutation in exon 1. This novel mutation results in a stop at codon 35 and a truncated non-functional GNAS1 protein.

Authors+Show Affiliations

Department of Internal Medicine, Division of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19856255

Citation

Klagge, A, et al. "A Novel GNAS1 Mutation in a German Family With Albright's Hereditary Osteodystrophy." Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, vol. 118, no. 9, 2010, pp. 586-90.
Klagge A, Jessnitzer B, Pfaeffle R, et al. A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. Exp Clin Endocrinol Diabetes. 2010;118(9):586-90.
Klagge, A., Jessnitzer, B., Pfaeffle, R., Stumvoll, M., & Fuhrer, D. (2010). A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 118(9), 586-90. https://doi.org/10.1055/s-0029-1237708
Klagge A, et al. A Novel GNAS1 Mutation in a German Family With Albright's Hereditary Osteodystrophy. Exp Clin Endocrinol Diabetes. 2010;118(9):586-90. PubMed PMID: 19856255.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. AU - Klagge,A, AU - Jessnitzer,B, AU - Pfaeffle,R, AU - Stumvoll,M, AU - Fuhrer,D, Y1 - 2009/10/23/ PY - 2009/10/27/entrez PY - 2009/10/27/pubmed PY - 2011/2/3/medline SP - 586 EP - 90 JF - Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association JO - Exp. Clin. Endocrinol. Diabetes VL - 118 IS - 9 N2 - Albright's hereditary osteodystrophy (AHO) is an inherited disorder and results from heterozygous loss of function mutation within the human G (s)α gene (GNAS1). AHO appears in two phenotypes, that may occur within the same family. Pseudohypoparathyroidism type Ia (PHP Ia) comprises the clinical features of AHO associated with parathyroid hormone (PTH) resistance while pseudo-pseudohypoparathyroidism (PPHP) includes AHO features without PTH resistance. In the present study we report a mother and a daughter with PPHP and PHP Ia respectively. The 13 exons of GNAS1 were analysed by PCR and direct sequencing. We identified a heterozygous missense mutation in exon 1. This novel mutation results in a stop at codon 35 and a truncated non-functional GNAS1 protein. SN - 1439-3646 UR - https://www.unboundmedicine.com/medline/citation/19856255/A_novel_GNAS1_mutation_in_a_German_family_with_Albright's_hereditary_osteodystrophy_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0029-1237708 DB - PRIME DP - Unbound Medicine ER -