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Carney complex and McCune Albright syndrome: an overview of clinical
manifestations and human molecular genetics
#MMPMID24012779
Salpea P
; Stratakis CA
Mol Cell Endocrinol
2014[Apr]; 386
(1-2
): 85-91
PMID24012779
show ga
Endocrine neoplasia syndromes feature a wide spectrum of benign and malignant
tumors of endocrine and non-endocrine organs associated with other clinical
manifestations. This study outlines the main clinical features, genetic basis,
and molecular mechanisms behind two multiple endocrine neoplasia syndromes that
share quite a bit of similarities, but one can be inherited whereas the other is
always sporadic, Carney complex (CNC) and McCune-Albright (MAS), respectively.
Spotty skin pigmentation, cardiac and other myxomas, and different types of
endocrine tumors and other characterize Carney complex, which is caused largely
by inactivating Protein kinase A, regulatory subunit, type I, Alpha (PRKAR1A)
gene mutations. The main features of McCune-Albright are fibrous dysplasia of
bone (FD), café-au-lait macules and precocious puberty; the disease is caused by
activating mutations in the Guanine Nucleotide-binding protein, Alpha-stimulating
activity polypeptide (GNAS) gene which are always somatic. We review the clinical
manifestations of the two syndromes and provide an update on their molecular
genetics.
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