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Lipodystrophy lmna

Agnieszka Madej-Pilarczyk, Adam Niezgoda, Magdalena Janus, Romuald Wojnicz, Michał Marchel, Anna Fidziańska, Stefan Grajek, Irena Hausmanowa-Petrusewicz
Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNA gene was found. The patient presented with overlapping syndrome of heart failure secondary to dilated cardiomyopathy, limb-girdle dystrophy and partial lipodystrophy. Endomyocardial biopsy revealed strong up-regulation of HLA classes I and II antigens on microvessels and induction of the class I antigens on cardiomyocytes...
September 1, 2016: Journal of Applied Genetics
Ragesh Panikkath, Deepa Panikkath, S Sanchez-Iglesias, D Araujo-Vilar, Joaquin Lado-Abeal
A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T) causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter...
July 2016: Journal of Investigative Medicine High Impact Case Reports
Susana Gonzalo, Ray Kreienkamp, Peter Askjaer
Products of the LMNA gene, primarily lamin A and C, are key components of the nuclear lamina, a proteinaceous meshwork that underlies the inner nuclear membrane and is essential for proper nuclear architecture. Alterations in lamin A and C that disrupt the integrity of the nuclear lamina affect a whole repertoire of nuclear functions, causing cellular decline. In humans, hundreds of mutations in the LMNA gene have been identified and correlated with over a dozen degenerative disorders, referred to as laminopathies...
June 29, 2016: Ageing Research Reviews
Xiaoxiao Guo, Chao Ling, Yongtai Liu, Xue Zhang, Shuyang Zhang
Mutations in the gene LMNA cause a wide spectrum of diseases that selectively affect different tissues and organ systems. The clinical features of these disorders can overlap but be generally categorized into 2 groups: cardiomyopathy and neuromuscular disorders; premature aging and lipodystrophy disorders. It is significant for a single patient who harbours the 2 sets of diseases simultaneously. We present a female patient with a unique phenotype including rare atypical progeroid syndrome and dilated cardiomyopathy...
September 2016: Canadian Journal of Cardiology
Leyla Ozer, Evrim Unsal, Suleyman Aktuna, Volkan Baltaci, Pelin Celikkol, Fatma Akyigit, Askin Sen, Ozge Ayvaz, Sevim Balci
Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and type B. The vast majority of MAD cases are caused by LMNA gene mutations. MAD patients with type A lipodystrophy (MADA) have been reported to have LMNA R527H, A529V, or A529T mutations...
July 2016: Clinical Dysmorphology
Paulina Krawiec, Beata Mełges, Elżbieta Pac-Kożuchowska, Agnieszka Mroczkowska-Juchkiewicz, Kamila Czerska
BACKGROUND: Familial partial lipodystrophy of the Dunnigan type (FPLD 2) is a rare autosomal dominant disorder caused by the mutations of the lamin A/C gene leading to the defective adipogenesis, premature death of adipocytes and lipotoxicity. FPLD 2 is characterized by a progressive loss of subcutaneous adipose tissue in the limbs and trunk, and accumulation of body fat in the face and neck with accompanying severe metabolic derangements including insulin resistance, glucose intolerance, diabetes, dyslipidemia, steatohepatitis...
2016: BMC Pediatrics
Pierre Ambrosi, Bernard Kreitmann, Hubert Lepidi, Gilbert Habib, Nicolas Levy, Nicole Philip, Annachiara De Sandre-Giovannoli
No abstract text is available yet for this article.
April 15, 2016: International Journal of Cardiology
A Buffet, M Lombes, P Caron
Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms...
October 2015: Annales D'endocrinologie
Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Huseyin Onay, Canan Tuncer Altay, Tahir Atik, Zeliha Hekimsoy, Fusun Saygili, Baris Akinci
BACKGROUND: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. CASE REPORT: Here, we report on a Turkish family with FPL2 which is caused by a novel heterozygous missense LMNA mutation in exon 1 (D47N, c...
April 2016: European Journal of Internal Medicine
Wafaa Sewairi, Abdulrahman Assiri, Nisha Patel, Amal Alhashem, Fowzan S Alkuraya
LMNA encodes lamin A and lamin C, two major components of the nuclear lamina, and its pathogenic variants lead to a dozen distinct clinical entities collectively known as laminopathies. Most LMNA-related laminopathies are autosomal dominant but four are autosomal recessive; furthermore, some of the dominant variants have been associated with distinct phenotypes when inherited recessively, further complicating the ability to correlate genotype with phenotype. We report a consanguineous family in which the index presented with an apparently unique constellation of poikiloderma, joint motion restriction and distal acroosteolysis but lacks features of muscle weakness, lipodystrophy, or cardiac or craniofacial involvement...
August 2016: European Journal of Human Genetics: EJHG
Krzysztof C Lewandowski, Andrzej Lewiński, Katarzyna Dąbrowska, Lucjusz Jakubowski, Agnieszka Gach
UNLABELLED: According to current diagnostic criteria, polycystic ovary syndrome (PCOS) is effective as a diagnosis of exclusion. Here, we present a case of a 31-year-old woman with a history of oligomenorrhoea and hirsutism, who, despite a "muscular" appearance and a normal body mass index (22.27 kg/m2), was found to have an extreme insulin resistance and diabetes accompanied by hyperandrogenism and polycystic ovaries. An autoimmune screen for possible latent autoimmune diabetes in adults was negative...
2015: Endokrynologia Polska
Vahid Reza Yassaee, Arash Khojaste, Feyzollah Hashemi-Gorji, Zeinab Ravesh, Parviz Toosi
Mandibuloacral dysplasia with type A lipodystrophy (MADA) is a rare genetic disorder inherited in an autosomal recessive fashion characterized by hypoplasia of the mandible and clavicles, acroosteolysis and lipodystrophy due to mutations in the LMNA or ZMPSTE24 genes. In the current study, we have investigated a consanguineous family clinically diagnosed with mandibuloacral dysplasia type A having an affected child for the LMNA gene alteration(s). Mother is now 15weeks pregnant, seeking advice on the health of her fetus...
February 10, 2016: Gene
Seungbok Lee, Sae Mi Park, Hyun Ji Kim, Jin-Wou Kim, Dong Soo Yu, Young Bok Lee
Clinical genomic diagnosis is unfamiliar to many dermatologists. Limited knowledge of bioinformatics has limited the use of the next generation sequencing method in dermatological clinics. We evaluated the usefulness of whole genome sequencing as a diagnostic approach to inherited dermatological disease. Here, we present our experience with two female siblings with atypical familial generalized lipodystrophy with diabetes mellitus and dyslipidemia. Whole genome sequencing was performed to diagnose the inherited disease...
December 2015: Journal of Dermatology
Konstanze Miehle, Joseph Porrmann, Diana Mitter, Michael Stumvoll, Christiane Glaser, Mathias Fasshauer, Katrin Hoffmann
OBJECTIVE: Familial partial lipodystrophy type 3 (FPLD3) is an autosomal dominant disorder with loss of subcutaneous adipose tissue at the extremities and metabolic complications such as insulin resistance, hypertriglyceridaemia and hypertension. The aim of this study was to characterize the molecular basis of a family of 5 affected members with FPLD3. METHODS: A 61-year-old female index patient and her relatives were assessed by detailed clinical and biochemical examinations...
January 2016: Clinical Endocrinology
E L Sorkina, M F Kalashnikova, G A Melnichenko, A N Tyulpakov
Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis nigricans, dyslipidemia, hepatic steatosis, hypertension, and polycystic ovary syndrome. The laminopathy variant familial partial lipodystrophy type 2 or Dunnigan syndrome (FPLD2) is the most common cause of partial LD. The paper describes a family (3 clinical cases) with FPLD2 caused by heterozygous R482W missense mutations in the gene encoding the protein lamin A/C (LMNA; 150330)...
2015: Terapevticheskiĭ Arkhiv
Patricia Sánchez, Arantza Infante, Garbiñe Ruiz de Eguino, Jorge A Fuentes-Maestre, José Manuel García-Verdugo, Clara I Rodríguez
CONTEXT: Lamin A (LMNA)-linked lipodystrophies belong to a group of clinical disorders characterized by a redistribution of adipose tissue with a variable range of metabolic complications. The leading cause of these disorders is the nonphysiological accumulation of the lamin A precursor, prelamin A. However, the molecular mechanisms by which prelamin A induces the pathology remain unclear. OBJECTIVE: The aim of this study is to use an experimental LMNA-lipodystrophy model based on human mesenchymal stem cell (hMSC)-derived adipocytes that accumulate prelamin A to gain deeper insights into the mechanisms governing these diseases...
July 2015: Journal of Clinical Endocrinology and Metabolism
Amélio Fernando Godoy-Matos, Cynthia M Valério, Juliana Bonadiman E Bragança, Ricardo de Andrade Oliveira, Roberto Luis Zagury, Rodolfo de Paula Lustosa, Gabriel Cordeiro Camargo, César Augusto da Silva Nascimento, Rodrigo O Moreira
BACKGROUND: Dunnigan type Familial Partial Lipodystrophy (FPLD) is characterized by loss of subcutaneous fat from the limbs and excessive accumulation on the visceral adipose tissue (VAT). Affected individuals have insulin resistance (IR), diabetes, dyslipidemia and early cardiovascular (CV) events, due to their imbalanced distribution of total body fat (TBF). Epicardial adipose tissue (EAT) is correlated with VAT. Hence, EAT could be a new index of cardiac and visceral adiposity with great potential as a marker of CV risk in FPLD...
2015: Diabetology & Metabolic Syndrome
Philippe Andre, Stéphane Schneebeli, Corinne Vigouroux, Olivier Lascols, Mathieu Schaaf, Philippe Chevalier
BACKGROUND: Laminopathies are associated with a broad spectrum of clinical manifestations, from lipodystrophy to cardiac diseases. The purpose of this study was to assess genotype-phenotype correlations in a lipodystrophic laminopathy caused by the Lamin A (LMNA) mutation T655fsX49. This mutation leads to synthesis of nonfarnesylated-mutated prelamin A that does not undergo the physiologic lamin A maturation process. METHODS AND RESULTS: We studied 35 patients originating from Reunion Island who carried the LMNA T655fsX49 mutation...
April 2015: American Heart Journal
Alexandre Chojnowski, Peh Fern Ong, Oliver Dreesen
The intermediate filament A- and B-type lamins are key architectural components of the nuclear lamina, a proteinaceous meshwork that lies underneath the inner nuclear membrane. In the past decade, many different monogenic human diseases have been linked to mutations in various components of the nuclear lamina. Mutations in LMNA (encoding lamin A and C) cause a variety of human diseases, collectively called laminopathies. These include cardiomyopathies, muscular dystrophies, lipodystrophies and progeroid syndromes...
June 2015: Cell and Tissue Research
Nathalie Vadrot, Isabelle Duband-Goulet, Eva Cabet, Wikayatou Attanda, Alice Barateau, Patrick Vicart, Fabien Gerbal, Nolwenn Briand, Corinne Vigouroux, Anja R Oldenburg, Eivind G Lund, Philippe Collas, Brigitte Buendia
Nuclear lamins are involved in many cellular functions due to their ability to bind numerous partners including chromatin and transcription factors, and affect their properties. Dunnigan type familial partial lipodystrophy (FPLD2; OMIM#151660) is caused in most cases by the A-type lamin R482W mutation. We report here that the R482W mutation affects the regulatory activity of sterol response element binding protein 1 (SREBP1), a transcription factor that regulates hundreds of genes involved in lipid metabolism and adipocyte differentiation...
April 1, 2015: Human Molecular Genetics
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