ArticleJournal of endocrinological investigation1996
A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism.
Article in Journal of endocrinological investigation, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 38 citations in OpenAlex.
- Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nature reviews. Endocrinology · 2018Review
- Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.The application of clinical genetics · 2015Review
- Frequency and effect on serum TSH of phosphodiesterase 8B (PDE8B) gene polymorphisms in patients with sporadic nonautoimmune subclinical hypothyroidism.Journal of endocrinological investigation · 2014Article
- Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.Endocrine · 2009Article
- Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.American journal of medical genetics. Part A · 2008Article
- TSH receptor and Gs(alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism.Journal of endocrinological investigation · 2003Article
- Pseudohypoparathyroidism with normocalcemia.Journal of endocrinological investigation · 2001Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the guanine nucleotide binding protein alpha subunit (Gs alpha) have been found in patients with pseudohypoparathyroidism (PHP). We have screened the Gs alpha gene for mutations in a Japanese patient with this disorder and identified a novel 4-base pair deletion in exon 7 in codons 189-190. This deletion causes a frameshift and if synthesis of a truncated form of Gs alpha occurred, it would likely be biologically inactive. The patient was heterozygous for this deletion. The patient's mother and an unaffected brother were tested for the presence of this mutation. His mother had the same mutation, and although her serum calcium and parathyroid hormone levels were within the normal range, she had subcutaneous calcifications. Thus, this mutation appears to be necessary but not sufficient to cause the complete pseudohypoparathyroidism phenotype and thus, other unknown factors, either genetic or acquired, may be necessary for the full syndrome to occur.
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