Albright hereditary osteodystrophy
Albright's hereditary osteodystrophy
Albright hereditary osteodystrophy (AHO) is caused by heterozygous deactivating GNAS1 mutations.
Etiology
heterozygous deactivating GNAS1 mutations.
There is a parent-of-origin effect. Maternally derived mutations are usually associated with resistance to parathyroid hormone termed "pseudohypoparathyroidism type Ia." Paternally derived mutations are associated with AHO but usually normal hormone responsiveness, known as "pseudo-pseudohypoparathyroidism." These observations can be explained by tissue-specific GNAS1 imprinting.
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