A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones

2011 ◽  
Vol 24 (5-6) ◽  
Author(s):  
Julia Winter ◽  
Olaf Hiort ◽  
Pia Hermanns ◽  
Susanne Thiele ◽  
Joachim Pohlenz
Keyword(s):  
Heterozygous Mutation ◽  
Type Ia ◽  
Alpha Gene ◽  
Gs Alpha

Activating mutations of the Gs alpha-gene in nonfunctioning pituitary tumors.

1993 ◽  
Vol 77 (3) ◽  
pp. 765-769 ◽  
Author(s):  
K Tordjman ◽  
N Stern ◽  
G Ouaknine ◽  
Y Yossiphov ◽  
N Razon ◽  
...  
Keyword(s):  
Pituitary Tumors ◽  
Activating Mutations ◽  
Alpha Gene ◽  
Gs Alpha

Activating genomic alterations in the Gs alpha gene ( GNAS ) in 274 694 tumors

2020 ◽  
Vol 59 (9) ◽  
pp. 503-516
Author(s):  
Amit Tirosh ◽  
Dexter X. Jin ◽  
Luiz De Marco ◽  
Yael Laitman ◽  
Eitan Friedman
Keyword(s):  
Genomic Alterations ◽  
Alpha Gene ◽  
Gs Alpha

scholarly journals Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

1994 ◽  
Vol 31 (11) ◽  
pp. 835-839 ◽  
Author(s):  
L C Wilson ◽  
M E Oude Luttikhuis ◽  
P T Clayton ◽  
W D Fraser ◽  
R C Trembath
Keyword(s):  
Gene Mutations ◽  
Parental Origin ◽  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy ◽  
Alpha Gene ◽  
Gs Alpha

scholarly journals Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

2005 ◽  
Vol 152 (4) ◽  
pp. 515-519 ◽  
Author(s):  
Felix G Riepe ◽  
Wiebke Ahrens ◽  
Nils Krone ◽  
Regina Fölster-Holst ◽  
Jochen Brasch ◽  
...  
Keyword(s):  
De Novo ◽  
Novel Mutation ◽  
Underlying Disease ◽  
Psychomotor Development ◽  
Heterozygous Mutation ◽  
Molecular Defect ◽  
Protein Activity ◽  
Hormone Substitution ◽  
Calcinosis Cutis ◽  
Type Ia

Objective: To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy. Case report: The male patient presented with moderately elevated blood thyrotropin levels at neonatal screening combined with slightly decreased plasma thyroxine and tri-iodothyronine concentrations, necessitating thyroid hormone substitution 2 weeks after birth. At the age of 7 months calcinosis cutis was seen and the patient underwent further investigation. Typical features of Albright’s hereditary osteodystrophy (AHO), including round face, obesity and delayed psychomotor development, were found. Methods and results: Laboratory investigation revealed a resistance to parathyroid hormone (PTH) with highly elevated PTH levels and a reduction in adenylyl cyclase-stimulating protein (Gsα) activity leading to the diagnosis of pseudohypoparathyroidism type Ia (PHP Ia). A novel heterozygous mutation (c364T > G in exon 5, leading to the amino acid substitution Ile-106 → Ser) was detected in the GNAS gene of the patient. This mutation was not found in the patient’s parents, both of whom showed normal Gsα protein activity in erythrocytes and no features of AHO. A de novo mutation is therefore likely. Conclusions: Subcutaneous calcifications in infancy should prompt the clinician to a thorough search for an underlying disease. The possibility of AHO and PHP Ia should be considered in children with hypothyroidism and calcinosis cutis. Systematic reviews regarding the frequency of calcinosis in AHO are warranted.

scholarly journals Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene

2017 ◽  
Vol 9 (1) ◽  
pp. 74-79
Author(s):  
Sezgin Şahin ◽  
Olaf Hiort ◽  
Susanne Thiele ◽  
Olcay Evliyaoğlu ◽  
Beyhan Tüysüz
Keyword(s):  
Heterozygous Mutation ◽  
Gnas Gene ◽  
Type Ia

Inactivating and activating mutations of the Gs alpha gene

2005 ◽  
Vol 66 (3) ◽  
pp. 258-263 ◽  
Author(s):  
A. Spada ◽  
G. Mantovani ◽  
A. Lania
Keyword(s):  
Activating Mutations ◽  
Alpha Gene ◽  
Gs Alpha

scholarly journals Isolation and characterization of the human Gs alpha gene.

1988 ◽  
Vol 85 (7) ◽  
pp. 2081-2085 ◽  
Author(s):  
T. Kozasa ◽  
H. Itoh ◽  
T. Tsukamoto ◽  
Y. Kaziro
Keyword(s):  
Isolation And Characterization ◽  
Alpha Gene ◽  
Gs Alpha
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