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http://purl.uniprot.org/citations/17803690http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/17803690http://www.w3.org/2000/01/rdf-schema#comment"

Objective

Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including short stature and brachydactyly, termed Albright hereditary osteodystrophy (AHO). In affected kindreds, some members may have AHO but not hormone resistance; they are termed as pseudopseudohypoparathyroidism (PPHP). The molecular basis for the disorder is heterozygous inactivating mutation of the Gsalpha gene. In affected families, subjects with both PHP-Ia and PPHP have the same Gsalpha mutations. The skeletal features common to PPHP and PHP-Ia are presumably caused by tissue-specific Gsalpha haploinsufficiency. Other features that distinguish between PPHP and PHP-Ia, such as the multihormone resistance, are presumably caused by tissue-specific paternal imprinting of Gsalpha. This suggests that major differences in phenotype between PHP-Ia and PPHP point to specific tissues with Gsalpha imprinting. One such major difference may be cognitive function in PHP-Ia and PPHP.

Design

Description of a large family with PHP-Ia and PPHP.

Patients

Eleven affected subjects with PHP-Ia or PPHP in one family.

Measurements

Cognitive impairment (CI) was defined by a history of developmental delay, learning disability and the Wechsler intelligence scale.

Results

CI occurred only in the five PHP-Ia but not in the six PPHP subjects. Hypothyroidism which occurred in all PHP-Ia subjects was apparently not the cause of CI as it was mild, and was treated promptly. Analysis of additional Israeli cases, and the published cases from the literature, all with documented Gsalpha mutations, revealed that CI is prevalent in PHP-Ia [60 of 77 subjects (79%)] but not in PPHP [3 of 30 subjects (10%)] (P < 1 x 10(-6)).

Conclusion

We suggest that Gsalpha is imprinted in the brain."xsd:string
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http://purl.uniprot.org/citations/17803690http://purl.uniprot.org/core/pages"233-239"xsd:string
http://purl.uniprot.org/citations/17803690http://purl.uniprot.org/core/title"Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha."xsd:string
http://purl.uniprot.org/citations/17803690http://purl.uniprot.org/core/volume"68"xsd:string
http://purl.uniprot.org/citations/17803690http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/17803690
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