LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma

Ghazi, Ali A.; Mandegar, Mohammad Hossein; Abazari, Mohammad; Behzadnia, Neda; Sadeghian, Taraneh; Torbaghan, Siamak Shariat; Amirbaigloo, Alireza.

Arch. endocrinol. metab. (Online); 65 (3), 2021

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,...

Acromegalia/genética, Complejo de Carney/genética, Síndrome de Cushing/genética, Subunidad RIalfa de la Proteína Quinasa Dependiente de AMP Cíclico/genética, Irán, Mutación, Mixoma/genética, Mixoma/cirugía

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Inflammatory myopathy in the context of an unusual overlapping laminopathy

Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscula...