Details

Autor(en) / Beteiligte

• Lim, Sharon H M
• Poh, Larry K S
• Cowell, Chris T
• Tey, Beng-Hea
• Loke, Kah-Yin

Titel

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

Ist Teil von

• Journal of Pediatric Endocrinology and Metabolism, 2002, Vol.15 (3), p.259

Ort / Verlag

Germany

Erscheinungsjahr

2002

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.