Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b

Genetic Testing and Molecular Biomarkers
Zobaida AlsumFowzan S Alkuraya

Abstract

Pseudohypoparathyroidism type 1b (PHP1b) is a rare metabolic bone disorder characterized by isolated renal parathyroid hormone resistance. The disorder is almost always associated with an imprinting defect or deletions in the differentially methylated region of the GNAS locus located on chromosome 20q13. In addition to the epigenetic and genetic aberrations of the differentially methylated region, PHP1b can also result from a deletion of STX16, a long-range control element of methylation at the GNAS locus located centromeric of GNAS. This report describes the utilization of a recently described methylation-specific multiplex-ligation-dependent probe amplification assay for high-throughput molecular analysis of a patient with the clinical diagnosis of PHP1b. Although more patients will need to be tested to confirm this, methylation-specific multiplex-ligation-dependent probe amplification in our hands proved to be a rapid, sensitive, and fairly easy-to-interpret assay that can be used in lieu of Southern blot analysis to diagnose PHP1b.

References

Aug 28, 2004·Endocrinology·Lee S WeinsteinMin Chen
Feb 16, 2005·Hormone Research·Murat Bastepe, Harald Jüppner
May 28, 2005·Nature Genetics·Douglas B WheelerDavid M Sabatini

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Citations

Sep 13, 2012·European Journal of Human Genetics : EJHG·Giovanna MantovaniGuiomar Perez de Nanclares
Feb 25, 2015·PloS One·Gustavo Perez-NanclaresLuis Castaño
Jul 1, 2018·Nature Reviews. Endocrinology·Giovanna MantovaniAgnès Linglart
Oct 30, 2010·Current Opinion in Endocrinology, Diabetes, and Obesity

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Methods Mentioned

BETA
X-ray
PCR
electrophoresis
Profiler

Software Mentioned

DNASTAR
Genetic Profiler
Coffalyser MLPA
Seqman

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