|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in Gsα-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental disorders including obesity, short stature, brachydactyly, cognitive impairment, and heterotopic ossification.
|
28889026 |
2018 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene.
|
20738794 |
2011 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating and activating mutations in the gene encoding G alpha s (GNAS1) are known to be the basis for 2 well-described contrasting clinical disorders, Albright hereditary osteodystrophy (AHO) and McCune-Albright syndrome (MAS).
|
8699958 |
1996 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
|
8702665 |
1996 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Similarly, impressive early weight gains were noted in five patients, who initially lacked additional Albright hereditary osteodystrophy features but in whom PHP1A due to GNAS mutations involving exons encoding Gsα was diagnosed.
|
28453643 |
2017 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Small insertions and deletions or point mutations of GNAS1 are found in approximately 80% of patients with AHO.
|
12407707 |
2002 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sequencing analysis of the GNAS gene identified a heterozygous missense mutation in exon 13 (R385H), which was previously reported in a PHP-Ia patient.
|
18250541 |
2008 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene.
|
12147228 |
2002 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical evaluation initially suggested the diagnosis of PHP-Ia [phenotype suggestive of Albright hereditary osteodystrophy (AHO) with parathyroid hormone (PTH) resistance] and PPHP (phenotype resembling AHO, without PTH resistance), but (epi)genetic analysis of the GNAS locus ruled out the suspected diagnosis.
|
24945424 |
2014 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
BEFREE |
This is the first large-scale GNAS CNV study in patients with common AHO features but no CNVs were detected.
|
22277900 |
2012 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to identify a GNAS mutation in a patient with a severe form of AHO and pseudohypoparathyroidism type 1a with phocomelia and to perform PGD on embryos derived by in vitro fertilization to deliver an unaffected infant.
|
18089698 |
2008 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of GNAS1 using genomic DNA of peripheral blood and of lesional and nonlesional tissue from our patient revealed a heterozygous 4-base pair (bp) deletion in exon 7, identical to mutations that have been found in some AHO patients.
|
11092389 |
2000 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).
|
18553568 |
2008 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (POH) cases have inactivating paternally inherited GNAS mutations.
|
22679513 |
2012 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting G(s)alpha coding exons of GNAS and epigenetic alterations in the same gene are associated with PHP-Ia and -Ib, respectively.
|
20008020 |
2010 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We set out to identify the parental origin of GNAS1 mutations in patients with AHO by searching for their mutation in the overlapping transcripts.
|
12624854 |
2003 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800).
|
14723729 |
2004 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
CTD_human |
Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia.
|
17299070 |
2007 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A).
|
27995443 |
2017 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this report, we describe two unrelated patients with mental retardation and brachydactyly E classified as patients suffering from Albright hereditary osteodystrophy-like (AHO-like) syndrome.
|
15547662 |
2004 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both the PHPIa and PPHP forms of AHO result from heterozygous deactivating mutations in the GNAS1 gene associated with a 50% reduction in bioactivity of the Gsalpha protein that it encodes.
|
12541184 |
2002 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
|
9727013 |
1998 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This finding is consistent with an imprinting of GNAS1 playing a role in the clinical phenotype of loss of function mutations and with a functional maternal GNAS1 allele having a predominant role in preventing the hormonal resistance of PHP-Ia.
|
11788646 |
2002 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gsα activity and expression, mutation of the GNAS locus, and methylation status were studied in patients with PHP and mild signs of AHO (PHP-Ia: 12; PHP-Ib: 17, of which 8 had some features of AHO).
|
21351142 |
2011 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, three of the 15 patients with AHO features but normal Gs alpha activity had genetic variations of GNAS.
|
16789630 |
2006 |