ArticleThe Journal of clinical endocrinology and metabolism2010
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
Article in The Journal of clinical endocrinology and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 38 citations in OpenAlex.
- Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016Trial
- Frequency ofFrontiers in endocrinology · 2022Article
- High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.The Journal of clinical endocrinology and metabolism · 2021Article
- Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.The Journal of clinical endocrinology and metabolism · 2020Article
- Cutaneous nodules and a novelWorld journal of clinical cases · 2020Article
- Review
- Article
- Pseudohypoparathyroidism.Endocrinology and metabolism clinics of North America · 2018Review
- Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nature reviews. Endocrinology · 2018Review
- Article
- Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Nature reviews. Endocrinology · 2016Review
- European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.European journal of human genetics : EJHG · 2015Article
- Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.PloS one · 2015Article
- Clinical utility gene card for: pseudohypoparathyroidism.European journal of human genetics : EJHG · 2013Article
- An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Current opinion in endocrinology, diabetes, and obesity · 2012Review
- Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2011Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
contextSeveral endocrine diseases that share resistance to PTH are grouped under the term pseudohypoparathyroidism (PHP). Patients with PHP type Ia show additional hormone resistance, defective erythrocyte G(s)alpha activity, and dysmorphic features termed Albright's hereditary osteodystrophy (AHO). Patients with PHP-Ib show less diverse hormone resistance and normal G(s)alpha activity; AHO features are typically absent in PHP-Ib. Mutations affecting G(s)alpha coding exons of GNAS and epigenetic alterations in the same gene are associated with PHP-Ia and -Ib, respectively. The epigenetic GNAS changes in familial PHP-Ib are caused by microdeletions near or within GNAS but without involving G(s)alpha coding exons.
objectiveWe sought to identify the molecular defect in a patient who was diagnosed with PHP-Ia based on clinical presentation (hormone resistance and AHO) but displayed the molecular features typically associated with PHP-Ib (loss of methylation at exon A/B) without previously described genetic mutations.
methodsMicrosatellite typing, comparative genome hybridization, and allelic dosage were performed for proband and her parents.
resultsComparative genome hybridization revealed a deletion of 30,431 bp extending from the intronic region between exons XL and A/B to intron 5. The same mutation was also demonstrated, by PCR, in the patient's mother, but polymorphism and allele dosage analyses indicated that she had this mutation in a mosaic manner.
conclusionWe discovered a novel multiexonic GNAS deletion transmitted to our patient from her mother who is mosaic for this mutation. The deletion led to different phenotypic manifestations in the two generation and appeared, in the patient, as loss of GNAS imprinting.
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Registered trials
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