Carney complex review: Genetic features.

Autor: Bosco Schamun MB; Sección de Endocrinología, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina. Electronic address: maria.bosco@hospitalitaliano.org.ar., Correa R; División de Endocrinología, Diabetes y Metabolismo, Facultad de Medicina Warren Alpert de la Universidad de Brown, Providence, RI, Estados Unidos; National Institute of Health (NIH), Bethesda, Estados Unidos., Graffigna P; Sección Medicina y Unidad de Tratamiento Intermedio, Hospital Doctor Luis Tisné Brousse, Universidad de Los Andes, Santiago, Chile., de Miguel V; Sección de Endocrinología, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Fainstein Day P; Sección de Endocrinología, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
Jazyk: English; Spanish; Castilian
Zdroj: Endocrinologia, diabetes y nutricion [Endocrinol Diabetes Nutr (Engl Ed)] 2018 Jan; Vol. 65 (1), pp. 52-59. Date of Electronic Publication: 2017 Nov 20.
DOI: 10.1016/j.endinu.2017.09.006
Abstrakt: Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex. This review will address the genetic aspects related to Carney complex.
(Copyright © 2017 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.)
Databáze: MEDLINE
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