A Case of the McCune: Albright Syndrome Associated with Activating Mutations of Stimulatory G Protein.
- Author:
Phil Ho CHUNG
1
;
Jung Kyu WHANG
;
Youn Yee KIM
;
Ji Ju WHANG
;
Chan Moon PARK
;
Chang Hoon YIM
;
Ho Yeun CHUNG
;
Ki Ok HAN
;
Hak Chul JANG
;
Hyun Koo YOON
;
Hun Ki MIN
;
Sung Ran HONG
;
Young Soon KANG
;
In Gul MOON
;
In Kwon HAN
Author Information
1. Department of Internal Medicine, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
McCune-Albright syndrome;
G protein;
Somatic mutation
- MeSH:
Adenylyl Cyclases;
Bone and Bones;
Codon;
DNA;
Female;
Fibrous Dysplasia, Polyostotic*;
GTP-Binding Proteins*;
Mutation, Missense;
Ovary;
Polymerase Chain Reaction
- From:Journal of Korean Society of Endocrinology
1999;14(4):779-785
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
McCune-Albright syndrome (MAS) is a sporadic disease classically including polyostotic fibrous dysplasia, cafe -au-lait spots, sexual precocity, and other hyperfunctional endocrinopathies. Recent investigations suggest an etiological role for activating embryonic somatic missense mutations in the gene for the a subunit of Gs (Gsa), the G protein that stimulates adenylyl cyclase. DNA from bone, ovary, and blood was analyzed by using polymerase chain reaction and sequenced. A embryological somatic mutation of Gsa gene encoding substitution of a Cys for Arg at amino acid 201 from cells of dysplastic bone and ovary was observed, and the distribution of mutant gene reveals mosaic pattern. We report a case of McCune-Albright syndrome with an activating mutation at codon 201 of Gsa subunit on ovary and bone tissue that was experienced recently.
