Please use this identifier to cite or link to this item: https://scholarbank.nus.edu.sg/handle/10635/131101
Title: Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a
Authors: Lim, S.H.M.
Poh, L.K.S.
Cowell, C.T.
Tey, B.-H.
Loke, K.-Y. 
Keywords: G sα gene
Mutational analysis
Pseudohypoparathyroidism
Issue Date: 2002
Citation: Lim, S.H.M., Poh, L.K.S., Cowell, C.T., Tey, B.-H., Loke, K.-Y. (2002). Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. Journal of Pediatric Endocrinology and Metabolism 15 (3) : 259-268. ScholarBank@NUS Repository.
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 I103T 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 (ΔGACT) 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.
Source Title: Journal of Pediatric Endocrinology and Metabolism
URI: http://scholarbank.nus.edu.sg/handle/10635/131101
ISSN: 0334018X
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