scholarly journals A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Difei Lu ◽  
Aimei Dong ◽  
Junqing Zhang ◽  
Xiaohui Guo
Keyword(s):  
Thyroid Stimulating Hormone ◽  
Guanine Nucleotide Binding Protein ◽  
Recurrent Seizure ◽  
Case Presentation ◽  
Albright’S Hereditary Osteodystrophy ◽  
Gnas Gene ◽  
Albright's Hereditary Osteodystrophy ◽  
Guanine Nucleotide Binding ◽  
Protein Alpha Subunit ◽  
Gnas Mutation

Abstract Background Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could manifest Albright’s hereditary osteodystrophy and multiple hormone resistance including gonadotropin and thyroid stimulating hormone. Case presentation Here we report a Chinese man who presented with fatigue, recurrent seizure and Albright’s hereditary osteodystrophy. His genetic study revealed a heterozygote mutation in the GNAS gene [NM_000516.4(GNAS): c2787_2788del (p.Val930AspfsTer12)]. After calcium and calcitriol supplement, his seizures achieved partially remission. Conclusions We report a case of PHP1a or 1c with a novel frameshift mutation in GNAS gene in a patient presenting with AHO, as well as TSH and partial gonadotropin resistance. This mutation in this case has not been reported in literature and adds to the spectrum of genetic mutations related to PHP.

scholarly journals Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Zhi-Min Miao ◽  
Can Wang ◽  
Bin-Bin Wang ◽  
Dong-Mei Meng ◽  
Dong-Mei Su ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Clinical Manifestations ◽  
Thyroid Stimulating Hormone ◽  
Functional Study ◽  
Gnas Gene ◽  
Stimulatory G Protein ◽  
Type Ia ◽  
G Protein Alpha Subunit ◽  
Protein Alpha Subunit

Pseudohypoparathyroidism type Ia (PHP Ia) is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO) phenotype. PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha subunit (Gsa). A patient with typical clinical manifestations of pseudohypoparathyroidism (PHP) (round face, short stature, centripetal obesity, brachydactyly, and multi-hormone resistance: parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), and gonadotropins) presented at our center. The sequence of the GNAS gene from the patient and her families revealed a novel missense mutation (Y318H) in the proband and her mother. An in vitro Gsa functional study showed that Gsa function was significantly impaired. These results stress the importance of GNAS gene investigation.

A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A

2020 ◽  
Vol 33 (9) ◽  
pp. 1219-1224
Author(s):  
Qi Wang ◽  
Jiayi Xian ◽  
Pingjiao Chen ◽  
Jingying Wang ◽  
Yan Gao ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Maternal Inheritance ◽  
De Novo ◽  
Novel Mutation ◽  
Subcutaneous Tissue ◽  
Thyroid Stimulating Hormone ◽  
Hormone Resistance ◽  
Case Presentation ◽  
Pth Resistance ◽  
Gnas Mutation

AbstractObjectivesObjectives Pseudohypoparathyroidism type 1A (PHP1A) is caused by maternal inheritance of GNAS mutations. It is characterized by the resistance to several hormones, primarily the parathyroid hormone (PTH), and the features of Albright’s hereditary osteodystrophy.Case presentationHere, we present a family comprised two affected brothers with PHP1A and identify a novel mutation (c.277C>T) in the GNAS gene. The siblings developed a slightly different presentation in the same clinical condition. Although both patients presented with PTH resistance, which is the hallmark of PHP, the proband showed the thyroid-stimulating hormone resistance with the progression of heterotopic ossification from skin and subcutaneous tissue into deep connective tissue, while the younger brother with normocalcemia did not show the resistance to other hormones. The patients may inherit the mutation from their mother who presumably carries the mutation as a mosaicism.ConclusionsOur case highlights the significance of considering mosaicism as an explanation for apparent de novo cases of pseudohypoparathyroidism.

Mapping the Heart

2010 ◽  
Vol 18 (4) ◽  
pp. 6-8
Author(s):  
Stephen W. Carmichael
Keyword(s):  
Cyclic Adenosine Monophosphate ◽  
Adenosine Monophosphate ◽  
G Protein Coupled Receptors ◽  
Receptor Subtypes ◽  
Cardiac Muscle Cells ◽  
Guanine Nucleotide Binding Protein ◽  
The Common ◽  
Guanine Nucleotide Binding ◽  
First Time ◽  
G Protein Coupled

Some of the receptors on the surface of cardiac muscle cells (cardiomyocytes) mediate the response of these cells to catecholamines by causing the production of the common second messenger cyclic adenosine monophosphate (cAMP). An example of such receptors are the β1- and β2-adrenergic receptors (βARs) that are heterotrimeric guanine nucleotide-binding protein (G protein)-coupled receptors. Selective stimulation of these two receptor subtypes leads to distinct physiological and pathophysiological responses, but their precise location on the surface of cardiomyocytes has not been correlated with these responses. In an ingenious combination of techniques, Viacheslav Nikolaev, Alexey Moshkov, Alexander Lyon, Michele Miragoli, Pavel Novak, Helen Paur, Martin Lohse, Yuri Korchev, Sian Harding, and Julia Gorelik have mapped the function of these receptors for the first time.

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