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Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene
- Source :
- Human genetics. 97(1)
- Publication Year :
- 1996
-
Abstract
- 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.
- Subjects :
- Adult
Male
Heterozygote
Gs alpha subunit
Adolescent
Molecular Sequence Data
medicine.disease_cause
Polymerase Chain Reaction
Frameshift mutation
Exon
GTP-Binding Proteins
Genetics
GNAS complex locus
medicine
Leukocytes
Humans
Frameshift Mutation
Gene
Genetics (clinical)
Pseudohypoparathyroidism
DNA Primers
Mutation
biology
Base Sequence
DNA
Exons
medicine.disease
Molecular biology
Pedigree
genomic DNA
biology.protein
Female
Subjects
Details
- ISSN :
- 03406717
- Volume :
- 97
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Human genetics
- Accession number :
- edsair.doi.dedup.....3ff6f4d1531b392163e61cd929eb9e1c