TITLE

Genetic diagnosis of multiple affected tissues in a patient with McCune–Albright syndrome

AUTHOR(S)
Ji Zhou; Li-hao Sun; Bin Cui; Huai-dong Song; Xiao-ying Li; Guang Ning; Jian-min Liu
PUB. DATE
April 2007
SOURCE
Endocrine (1355008X);Apr2007, Vol. 31 Issue 2, p212
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
McCune–Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, ‹café-au-lait’ skin pigmentation, and hyperfunctional endocrinopathy. It is caused by embryonic somatic mutations leading to the substitution of His or Cys for Arg at amino acid 201 of the alpha-subunit of the signal transduction protein Gs (Gsα). A 32-year-old man was diagnosed as McCune–Albright syndrome with the following findings: polyostotic fibrous dysplasia, ‹café-au-lait’ spots and acromegaly. An ultrasonic examination showed that he had left-pleural effusion, which disappeared after almost a year without special treatment. Genomic DNA was isolated from the peripheral blood, bone tissue, skin lesion and pleura samples of the patient. Then PCR and direct sequencing were performed. An activating mutation of the Gsα gene (Arg201Cys) was found in the genomic DNA isolated from the peripheral blood and the bone tissue, but not in genomic DNA isolated from the skin and pleura samples.
ACCESSION #
26647601

 

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