High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.

ABSTRACT:

Context

Patients with pseudohypoparathyroidism type 1b (PHP1b) show disordered imprinting of the maternal GNAS allele or paternal uniparental disomy (UPD). Genetic deletions in STX16 or in upstream exons of GNAS are present in many familial but not sporadic cases.

Objective

Characterization of epigenetic and genetic defects in patients with PHP1b.

Design and patients

DNA from 84 subjects, including 26 subjects with sporadic PHP1b, 27 affected subjects and 17 unaffected and/or obligate gene carriers from 12 PHP1b families, 11 healthy individuals, and 3 subjects with PHP1a was subjected to quantitative pyrosequencing of GNAS differentially methylated regions (DMRs), microarray analysis, and microsatellite haplotype analysis.

Setting

Academic medical center.

Ma

SUBMITTER: Danzig J 

PROVIDER: S-EPMC8677598 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature