PMID: 11926205Apr 3, 2002Paper

Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a

Journal of Pediatric Endocrinology & Metabolism : JPEM
Sharon H M LimKah-Yin Loke

Abstract

We analyzed the GNAS1 gene in five patients with pseudohypoparathyroidism type 1a (PHP1a) by performing polymerase chain reaction, followed by sequencing all 13 exons of the gene, single-stranded conformational polymorphism (SSCP) or heteroduplex analysis (HD). Three novel mutations were discovered: (1) a de novo 3 bp insertion of CTG in codon 47 of exon 1; (2) a missense mutation 1103T in exon 4; and (3) a de novo mutation of Arg280Gly in exon 10. Two other mutations, previously described in the literature, include: (1) a de novo 4 bp deletion (deltaGACT) involving codons 189 and 190 in exon 7, and (2) a deletion of a cytosine nucleotide at codon 115 in exon 5. We conclude that mutational analysis of the GNAS1 gene is a strong supportive tool for the diagnosis of PHP1a, and is a useful adjunct to the synthetic parathyroid hormone infusion test for PTH resistance.

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Citations

Jan 1, 2008·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·U JochumsenP M Holterhus
Apr 19, 2005·Obesity Research·Louis PérusseClaude Bouchard
Mar 27, 2004·Obesity Research·Eric E SnyderClaude Bouchard
Mar 23, 2017·The Journal of Clinical Endocrinology and Metabolism·Alessia UsardiAgnès Linglart
Apr 2, 2002·Journal of Pediatric Endocrinology & Metabolism : JPEM·Zvi Farfel

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