A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma
Arch. endocrinol. metab. (Online)
;
65(3): 376-380, May-June 2021. tab, graf
Artículo
en Inglés
| LILACS
| ID: biblio-1285146
ABSTRACT
SUMMARY Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodular adrenocortical disease and pigmented schwanoma of the skin. PRKAR1A gene was PCR amplified using genomic DNA and analyzed for sequence variants which revealed the novel mutation resulting in substitution of amino acid cysteine instead of the naturally occurring valine in the peptide chain and a premature stop codon at position 18 (V215CfsX18). This change leads to development of tumors in different organs due to lack of tumor suppressive activity secondary to failure of synthesis of the related protein.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Acromegalia
/
Síndrome de Cushing
/
Complejo de Carney
/
Mixoma
Límite:
Adulto
/
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
Endocrinologia
/
Metabolismo
Año:
2021
Tipo del documento:
Artículo
País de afiliación:
Irán
Institución/País de afiliación:
Azad University of Medical Sciences/IR
/
Shahid Beheshti University of Medical Sciences/IR
/
Tehran University of Medical Sciences/IR
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