Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4647
Abstract: Pseudohypoparathyroidism type Ib (PHP1B) is characterized predominantly by resistance to parathyroid hormone (PTH) leading to hypocalcemia and hyperphosphatemia. These laboratory abnormalities are caused by maternal loss‐of‐methylation (LOM) at GNAS exon A/B, which reduces in cis… read more here.
Keywords: type php1b; methylation; php1b; gnas exon ... See more keywords
A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
Sign Up to like & getrecommendations! Published in 2017 at "Bone"
DOI: 10.1016/j.bone.2017.07.013
Abstract: GNAS exons 1-13 encode the biallelically expressed alpha-subunit of the stimulatory G protein (Gαs). Additional transcripts derived from this locus use alternative first exons that undergo parent-specific methylation, thus allowing transcription only from the non-modified… read more here.
Keywords: refines region; methylation; gnas exon; novel deletion ... See more keywords