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.
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Authors | A Klagge, B Jessnitzer, R Pfaeffle, M Stumvoll, D Fuhrer |
Journal | Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
(Exp Clin Endocrinol Diabetes)
Vol. 118
Issue 9
Pg. 586-90
(10 2010)
ISSN: 1439-3646 [Electronic] Germany |
PMID | 19856255
(Publication Type: Case Reports, Journal Article)
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Copyright | © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York. |
Chemical References |
- Chromogranins
- GNAS protein, human
- GTP-Binding Protein alpha Subunits, Gs
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Topics |
- Adult
- Chromogranins
- DNA Mutational Analysis
- Family
- Female
- Fibrous Dysplasia, Polyostotic
(genetics)
- GTP-Binding Protein alpha Subunits, Gs
(genetics)
- Germany
- Humans
- Mutation, Missense
(physiology)
- Pseudohypoparathyroidism
- Young Adult
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