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- Case Report A Case of the McCune: Albright Syndrome Associated with Activating Mutations of Stimulatory G Protein.
- Phil Ho Chung, 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
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Endocrinology and Metabolism 1999;14(4):779-785
Published online: January 1, 2001
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2Department of Pathology, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
3Endocrine Reserach Laboratory, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
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.
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