Document Detail

Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene.
MedLine Citation:
PMID:  8557265     Owner:  NLM     Status:  MEDLINE    
Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disease characterized by resistance to PTH and other hormones that act via cAMP. Patients have deficient activity of Gs alpha, the alpha subunit of the G protein, which couples hormone receptors to stimulation of adenylate cyclase. We describe two new mutations discovered in two sporadic patients with PHP-Ia. Using genomic DNA, we have amplified exons 2-13 of the Gs alpha gene (GNAS1) by PCR, and sequenced the resulting products. Both patients had Albright's hereditary osteodystrophy, resistance to multiple hormones, and deficient Gs alpha activity. In the first patient, a deletion of a C in exon 5 at codon 115 was found. In the second patient, an insertion of a C in exon 10 at codon 267 was detected. Both these heterozygous mutations cause frameshift, and predict decreased production of Gs alpha. This report adds two new Gs alpha mutations to the known ten mutations recently described.
H Shapira; M Mouallem; M S Shapiro; Y Weisman; Z Farfel
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Human genetics     Volume:  97     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1996 Jan 
Date Detail:
Created Date:  1996-02-23     Completed Date:  1996-02-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  73-5     Citation Subset:  IM    
Biochemical Pharmacology Laboratory, Sheba Medical Center, Tel Hashome, Israel.
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MeSH Terms
Base Sequence
DNA / blood
DNA Primers
Frameshift Mutation*
GTP-Binding Proteins / genetics*
Leukocytes / metabolism
Molecular Sequence Data
Polymerase Chain Reaction
Pseudohypoparathyroidism / blood,  classification,  genetics*
Reg. No./Substance:
0/DNA Primers; 9007-49-2/DNA; EC 3.6.1.-/GTP-Binding Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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