Open AccessFahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
Author(s) -
Debbabi Wided,
Khelifi Dayssem,
Kharrat Issam,
Samet Slim
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5849
Subject(s) - gnas complex locus , pseudohypoparathyroidism , hyperphosphatemia , medicine , parathyroid hormone , endocrinology , mutation , gene , genetics , biology , calcium
Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP‐1a. In this report, we present a familial PHP‐1a and a novel mutation of the GNAS gene.