scholarly journals Epigenetic Defects ofGNASin Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

2007 ◽  
Vol 92 (6) ◽  
pp. 2370-2373 ◽  
Author(s):  
Guiomar Pérez de Nanclares ◽  
Eduardo Fernández-Rebollo ◽  
Izortze Santin ◽  
Beatriz García-Cuartero ◽  
Sonia Gaztambide ◽  
...  
Keyword(s):  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy ◽  
Epigenetic Defects

ALBRIGHT'S HEREDITARY OSTEODYSTROPHY

1980 ◽  
Vol 69 (3) ◽  
pp. 305-309 ◽  
Author(s):  
B. BOSCHERINI ◽  
G. COEN ◽  
G. BIANCHINI ◽  
G. GALLUCCI ◽  
P. BALLANTI ◽  
...  
Keyword(s):  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy

Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy

1990 ◽  
Vol 322 (20) ◽  
pp. 1412-1419 ◽  
Author(s):  
Jennifer L. Patten ◽  
Donald R. Johns ◽  
David Valle ◽  
Charles Eil ◽  
Philip A. Gruppuso ◽  
...  
Keyword(s):  
Adenylate Cyclase ◽  
G Protein ◽  
Gene Encoding ◽  
Albright’S Hereditary Osteodystrophy ◽  
Stimulatory G Protein ◽  
Albright's Hereditary Osteodystrophy

Brachydactyly and Pseudo-Pseudohypoparathyroidism

1968 ◽  
Vol 17 (3) ◽  
pp. 428-438 ◽  
Author(s):  
Keith P. Hertzog
Keyword(s):  
Middle Phalanx ◽  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy ◽  
Epiphyseal Union ◽  
A Current ◽  
Little Finger

SummaryShortened fifth middle phalanges, defined as being less than half the length of the fourth middle phalanx, were found in 12 of 96 Philadelphia Chinese and none of 200 Philadelphia Negro children. At least nine of these can be characterized as having stunted cratered diaphyses, with precocious cone epiphyses, which underwent very early epiphyseal union.The possible extension of a current vascular hypothesis for cone epiphyses, to include inherited osseous variation in this region of the little finger, is discussed.A classification of metacarpal brachydactyly is presented, with the intention of investigating the syndrome of pseudopseudohypoparathyroidism. Reports of cases which have been held to negate the theory that Albright's hereditary osteodystrophy is sex linked were found to have the pattern of phalangeal shortening exhibited by one of the forms of metacarpal brachydactyly. This finding lends support to the contention of others that these reported cases are not pseudo-pseudohypoparathyroidism.

scholarly journals Phenotypic and Molecular Genetic Aspects of Pseudohypoparathyroidism Type Ib in a Greek Kindred: Evidence for Enhanced Uric Acid Excretion Due to Parathyroid Hormone Resistance

2004 ◽  
Vol 89 (12) ◽  
pp. 5942-5947 ◽  
Author(s):  
Elena Laspa ◽  
Murat Bastepe ◽  
Harald Jüppner ◽  
Agathocles Tsatsoulis
Keyword(s):  
Uric Acid ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Fractional Excretion ◽  
Dominant Form ◽  
Renal Handling ◽  
Α Subunit ◽  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy ◽  
Pth Resistance

Abstract The predominant feature of pseudohypoparathyroidism (PHP) is renal resistance to PTH. Pseudohypoparathyroidism type Ia (PHP-Ia) is caused by maternally inherited heterozygous mutations in the GNAS exons encoding the α-subunit of the stimulatory G protein (Gsα). Besides PTH resistance, PHP-Ia patients have Albright’s hereditary osteodystrophy and often display resistance to additional hormones. Patients with PHP-Ib lack features of Albright’s hereditary osteodystrophy, and PTH resistance is associated with loss of methylation at the maternal GNAS exon A/B. Most individuals with the autosomal dominant form of PHP-Ib have a 3-kb microdeletion within STX16 approximately 220 kb upstream of exon A/B. Here we report on the clinical and genetic aspects of a Greek PHP-Ib kindred with four affected members and three obligate carriers, who had the 3-kb deletion within STX16. Symptomatic hypocalcemia was present only in the proband, but PTH was elevated in all members who had inherited the 3-kb deletion maternally. In all affected family members, urinary phosphate excretion was normal, but 1,25-dihydroxyvitamin D levels were diminished. These findings confirm previous data regarding patient to patient variation in disease severity for autosomal dominant PHP-Ib. Furthermore, affected individuals displayed hypouricemia with increased fractional excretion of uric acid, suggesting possible involvement of PTH in the renal handling of this metabolite.

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