e-Article
A novel synonymous variant in exon 1 of GNASgene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family
Document Type
Article
Author
Source
Bone Reports; June 2021, Vol. 14 Issue: 1
Subject
Language
ISSN
23521872
Abstract
Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or paternal allele, respectively, in the imprinted GNASgene, which encodes the α subunit of the ubiquitously-expressed stimulatory G protein (Gαs).