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Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.
JCI Insight
December 2024
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Article Synopsis
- - Pseudohypoparathyroidism type 1B (PHP1B) is caused by epigenetic changes affecting the GNAS gene, leading to parathyroid hormone resistance, especially in kidney cells due to inhibited Gsα protein expression from the maternal allele.
- - Genetic defects in PHP1B patients include loss of methylation in specific regions and additional methylation issues in some, prompting researchers to identify the genetic basis for autosomal dominant PHP1B in families with complex GNAS methylation problems.
- - Genome sequencing highlighted small GNAS variants and a microdeletion in affected families that possibly alter AS transcript expression, leading to reduced NESP transcription, thus suggesting a mechanism behind PHP1B development.
exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B.
J Pediatr Endocrinol Metab
August 2024
Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Article Synopsis
- Pseudohypoparathyroidism (PHP) is a group of disorders causing low calcium and high phosphate levels due to the body's resistance to parathyroid hormone, with PHP type 1B (PHP1B) linked to genetic deletions or methylation issues.
- A 39-year-old male patient with PHP1B experienced his first seizure at 15, and genetic tests revealed significant abnormalities in STX16 and GNAS.
- The study emphasizes the importance of recognizing symptoms, conducting necessary tests, and understanding genetic factors for early diagnosis and treatment of PHP1B.
C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature.
J Clin Med
December 2023
Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, Italy.
Hypercalcitoninaemia has been described in patients with pseudohypoparathyroidism (PHP) type 1A and 1B. Elevated calcitonin levels are thought to result from impaired Gsα receptor signaling, leading to multiple hormone resistance. Evidence on the risk of medullary thyroid carcinoma (MTC) or C-cell hyperplasia in PHP patients with hypercalcitoninaemia is lacking.
View Article and Find Full Text PDF(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Eur J Endocrinol
December 2023
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
Article Synopsis
- This study focused on Pseudohypoparathyroidism type 1B (PHP1B) and its various causes linked to methylation defects on the GNAS locus, aiming to clarify clinical characteristics within different patient groups.
- Researchers analyzed 84 patients, categorizing them into five groups based on their methylation patterns and inheritance types, looking at symptoms and ages at diagnosis.
- Results showed that the sporadic PHP1B group had younger patients and distinct symptoms compared to others, and while neurodevelopmental disorders were noted, no clear links were found between methylation ratios and hormone levels.
Pseudohypoparathyroidism: complex disease variants with unfortunate names.
J Mol Endocrinol
January 2024
Endocrine Unit, Department of Medicine and Pediatric Nephrology Unit, Department of Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Several human disorders are caused by genetic or epigenetic changes involving the GNAS locus on chromosome 20q13.3 that encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Thus, pseudohypoparathyroidism type Ia (PHP1A) is caused by heterozygous inactivating mutations involving the maternal GNAS exons 1-13 resulting in characteristic abnormalities referred to as Albright's hereditary osteodystrophy (AHO) that are associated with resistance to several agonist ligands, particularly to parathyroid hormone (PTH), thereby leading to hypocalcemia and hyperphosphatemia.
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