Inflammatory myopathy in the context of an unusual overlapping laminopathy

Autor: Guillín-Amarelle, Cristina, Sánchez-Iglesias, Sofía, Mera, Antonio, Pintos, Elena, Castro-Pais, Ana, Rodríguez-Cañete, Leticia, Pardo, Julio, Casanueva, Felipe F., Araújo-Vilar, David
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Archives of Endocrinology and Metabolism v.62 n.3 2018
Arquivos de Endocrinologia e Metabolismo
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Archives of Endocrinology and Metabolism, Issue: ahead, Published: 17 MAY 2018
Archives of Endocrinology and Metabolism, Volume: 62, Issue: 3, Pages: 376-382, Published: 17 MAY 2018
Popis: 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 muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot–Marie–Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported. This study aimed to determine the genetic basis of an overlapping syndrome in a patient with heart disease, myopathy, and features of lipodystrophy, combined with severe metabolic syndrome. We evaluated a 54-year-old woman with rheumatoid arthritis, chronic hypercortisolism (endogenous and exogenous), and a history of cured adrenal Cushing syndrome. The patient presented with a complex disorder, including metabolic syndrome associated with mild partial lipodystrophy (Köbberling-like); mild hypertrophic cardiomyopathy, with Wolff–Parkinson– White syndrome and atrial fibrillation; and limb-girdle inflammatory myopathy. Mutational analysis of the LMNA gene showed a heterozygous c.1634G>A (p.R545H) variant in exon 10 of LMNA. This variant has previously been independently associated with FPLD2, EDMD2, LGMD1B, and heart disease. We describe a new, LMNA-associated, complex overlapping syndrome in which fat, muscle, and cardiac disturbances are related to a p.R545H variant.
Databáze: OpenAIRE
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