Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS

DEMİRCİOĞLU, SERAP; Thiele, Susanne; Tafaj, Olta; Brix, Bettina; Atay, Zeynep; ABALI, SAYGIN; HALİLOĞLU, BELMA; BEREKET, ABDULLAH; Bastepe, Murat

doi:10.1016/j.bone.2014.10.006

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS

DEMİRCİOĞLU S., Thiele S., Tafaj O., Brix B., Atay Z., ABALI S., ...Daha Fazla

BONE, cilt.71, ss.53-57, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 71
Basım Tarihi: 2015
Doi Numarası: 10.1016/j.bone.2014.10.006
Dergi Adı: BONE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
Sayfa Sayıları: ss.53-57
Anahtar Kelimeler: Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, GNAS, Hormone resistance, XL-ALPHA-S, ALBRIGHT HEREDITARY OSTEODYSTROPHY, MATERNAL TRANSMISSION, GENE, PSEUDOPSEUDOHYPOPARATHYROIDISM, DEFICIENCY, G(S)ALPHA, IA, PATHOGENESIS, ASSOCIATION
Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

Context: Loss-of-function GNAS mutations lead to hormone resistance and Albright's hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP).