TY - JOUR
T1 - Pseudohypoparathyroidism type la
T2 - Two new heterozygous frameshift mutations in exons 5 and 10 of the Gsα gene
AU - Shapira, Hagit
AU - Mouallem, Meir
AU - Shapiro, Menachem S.
AU - Weisman, Yosef
AU - Farfel, Zvi
PY - 1996/1
Y1 - 1996/1
N2 - 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 Gsα, the α 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 Gsα gene (GNAS1) by PCR, and sequenced the resulting products. Both patients had Albright's hereditary osteodystrophy. resistance to multiple hormones, and deficient Gsa 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 Gsα. This report adds two new Gsα mutations to the known ten mutations recently described.
AB - 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 Gsα, the α 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 Gsα gene (GNAS1) by PCR, and sequenced the resulting products. Both patients had Albright's hereditary osteodystrophy. resistance to multiple hormones, and deficient Gsa 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 Gsα. This report adds two new Gsα mutations to the known ten mutations recently described.
UR - http://www.scopus.com/inward/record.url?scp=0030026060&partnerID=8YFLogxK
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AN - SCOPUS:0030026060
SN - 0340-6717
VL - 97
SP - 73
EP - 75
JO - Human Genetics
JF - Human Genetics
IS - 1
ER -