Pseudohypoparathyroidism type 1a due to a novel mutation in theGNASgene
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Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene
Dear Editor, Pseudohypoparathyroidism type 1a (PHP1a) (OMIM #103580) is characterized by hypocalcaemia and hyperphosphataemia due to parathyroid hormone (PTH) resistance, associated with features of Albright’s Hereditary Osteodystrophy (AHO) which include short stature, obesity, subcutaneous calcifications and brachydactyly. PHP1a is caused by heterozygous germline mutations of the alpha subuni...
متن کاملA novel mutation in a case of pseudohypoparathyroidism type Ia.
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 month...
متن کاملA Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G pr...
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متن کاملGNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, which is encoded by a complex imprinted locus termed GNAS. Paternally inherited mutations can lead either...
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ژورنال
عنوان ژورنال: Clinical Endocrinology
سال: 2015
ISSN: 0300-0664
DOI: 10.1111/cen.12953