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A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.
Genomics. 1992 Aug; 13(4):1319-21.G

Abstract

Several heterozygous mutations within the gene encoding the alpha-subunit of Gs (GNAS1), the G protein that stimulates adenylyl cyclase, have been previously identified in patients with Albright hereditary osteodystrophy (AHO). We have now identified a fourth GNAS1 mutation from an AHO patient. Amplification by the polymerase chain reaction (PCR) of a genomic fragment encompassing GNAS1 exons 7 and 8 from one patient resulted in a product with aberrant migration on nondenaturing polyacrylamide and agarose gels. Direct DNA sequencing identified a 4-bp deletion in one allele of exon 7 encoding a frameshift with a premature stop codon. Analysis of lymphocyte RNA by reverse transcription-PCR and direct sequencing showed that the GNAS1 allele bearing the mutation is not expressed as mRNA. Consistent with this, Northern analysis revealed an approximate 50% deficiency in steady-state levels of GNAS1 mRNA. These findings further illustrate the heterogeneity of GNAS1 gene defects in AHO.

Authors+Show Affiliations

Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland 20892.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

1505964

Citation

Weinstein, L S., et al. "A Heterozygous 4-bp Deletion Mutation in the Gs Alpha Gene (GNAS1) in a Patient With Albright Hereditary Osteodystrophy." Genomics, vol. 13, no. 4, 1992, pp. 1319-21.
Weinstein LS, Gejman PV, de Mazancourt P, et al. A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. Genomics. 1992;13(4):1319-21.
Weinstein, L. S., Gejman, P. V., de Mazancourt, P., American, N., & Spiegel, A. M. (1992). A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. Genomics, 13(4), 1319-21.
Weinstein LS, et al. A Heterozygous 4-bp Deletion Mutation in the Gs Alpha Gene (GNAS1) in a Patient With Albright Hereditary Osteodystrophy. Genomics. 1992;13(4):1319-21. PubMed PMID: 1505964.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. AU - Weinstein,L S, AU - Gejman,P V, AU - de Mazancourt,P, AU - American,N, AU - Spiegel,A M, PY - 1992/8/1/pubmed PY - 1992/8/1/medline PY - 1992/8/1/entrez SP - 1319 EP - 21 JF - Genomics JO - Genomics VL - 13 IS - 4 N2 - Several heterozygous mutations within the gene encoding the alpha-subunit of Gs (GNAS1), the G protein that stimulates adenylyl cyclase, have been previously identified in patients with Albright hereditary osteodystrophy (AHO). We have now identified a fourth GNAS1 mutation from an AHO patient. Amplification by the polymerase chain reaction (PCR) of a genomic fragment encompassing GNAS1 exons 7 and 8 from one patient resulted in a product with aberrant migration on nondenaturing polyacrylamide and agarose gels. Direct DNA sequencing identified a 4-bp deletion in one allele of exon 7 encoding a frameshift with a premature stop codon. Analysis of lymphocyte RNA by reverse transcription-PCR and direct sequencing showed that the GNAS1 allele bearing the mutation is not expressed as mRNA. Consistent with this, Northern analysis revealed an approximate 50% deficiency in steady-state levels of GNAS1 mRNA. These findings further illustrate the heterogeneity of GNAS1 gene defects in AHO. SN - 0888-7543 UR - https://www.unboundmedicine.com/medline/citation/1505964/A_heterozygous_4_bp_deletion_mutation_in_the_Gs_alpha_gene__GNAS1__in_a_patient_with_Albright_hereditary_osteodystrophy_ DB - PRIME DP - Unbound Medicine ER -