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LMNA

Comprehensive Lipodystrophy Panel

Lipodystrophies are characterized by generalized or partial absence of adipose tissue and are typically considered in individuals with insulin resistance, significant dyslipidaemia and fatty liver.   Lipodystrophies are typically classified according to the anatomical distribution of fat tissue: 

Congenital generalized lipodystrophy, which is typically apparent from birth, is characterized by generalized loss of adipose tissue affecting the limbs, trunk, face and neck.  Advanced bone age and linear growth and skeletal muscle prominence can be seen during childhood.  Severe dyslipideaemia, hepatomegaly and non-alcoholic steatoheaptitis are almost always noted. 

Partial lipodystrophy, which may not be prominent until puberty and is typically milder, is characterized by abnormal fat topography along with an overall reduction in fat mass affecting the limb with variable truncal involvement and normal or excess fat on the face and neck.   Women are typically more severely affected than men.  Asymptomatic impaired glucose tolerance to severe insulin resistance can be noted, and non-alcoholic steatohepatitis and cardiovascular disease are common complications.  

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Partial Lipodystrophy Panel

Partial lipodystrophy, which may not be prominent until puberty and is typically milder, is characterized by abnormal fat topography along with an overall reduction in fat mass affecting the limb with variable truncal involvement and normal or excess fat on the face and neck.   Women are typically more severely affected than men.  Asymptomatic impaired glucose tolerance to severe insulin resistance can be noted, and non-alcoholic steatohepatitis and cardiovascular disease are common complications.  

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LMNA deletion/duplication analysis

Dilated cardiomyopathy (DCM) is a severe disease of heart muscle characterized by progressive ventricular dilation and impaired systolic function and is a major cause of congestive heart failure.  Mutations of the Lamin A/C gene (LMNA) have been identified in ~8% of all DCM patients.  Of the subset of inherited DCM patients with accompanying conduction disease, LMNA mutations are present in 40-50% of cases.

Emery-Dreifuss Muscular Dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and late onset cardiomyopathy and arrhythmia.  EDMD can be either X-linked or autosomal dominant in inheritance, and the vast majority of autosomal dominant cases are due to mutations in the LMNA gene.

One form of Limb Girdle Muscular Dystrophies (LGMD), LGMD1B is autosomal dominant with slowly progressive limb girdle muscular dystrophy, age-related atrioventricular cardiac conduction disturbances, and the absence of early contractures.  Mutations of the LMNA gene are the basis of LGMD1B.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that causes clinical features in childhood that are associated with premature aging.  Such features may include hair loss, growth retardation, joint degeneration, and atherosclerosis.  A vast majority of patients with HGPS have a LMNA G608G mutation, but other mutations in LMNA have been reported.

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder caused by LMNA mutations, which results in post-natal growth retardation, craniofacial and skeletal anomalies, and mottled cutaneous pigmentation.

Charcot-Marie-Tooth type 2B1 is an axonal autosomal recessive laminopathy and neuropathy, characterized predominantly by symmetrical distal muscle weakness and atrophy.  Individuals initially present with depressed or absent tendon reflexes with weakness of foot dorsiflexion at the ankle.

Familial partial lipodystrophy (FLPD), Dunnigan type, is an autosomal dominant disease caused by mutations in LMNA and characterized by the progressive loss of subcutaneous fat from the extremities.

Deletions and/or duplications of the LMNA gene as causative of disease have been reported.

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LMNA sequencing (Lamin A/C)

Dilated cardiomyopathy (DCM) is a severe disease of heart muscle characterized by progressive ventricular dilation and impaired systolic function and is a major cause of congestive heart failure.  Mutations of the Lamin A/C gene (LMNA) have been identified in ~8% of all DCM patients.  Of the subset of inherited DCM patients with accompanying conduction disease, LMNA mutations are present in 40-50% of cases.

Emery-Dreifuss Muscular Dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and late onset cardiomyopathy and arrhythmia.  EDMD can be either X-linked or autosomal dominant in inheritance, and the vast majority of autosomal dominant cases are due to mutations in the LMNA gene.

One form of Limb Girdle Muscular Dystrophies (LGMD), LGMD1B is autosomal dominant with slowly progressive limb girdle muscular dystrophy, age-related atrioventricular cardiac conduction disturbances, and the absence of early contractures.  Mutations of the LMNA gene are the basis of LGMD1B.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that causes clinical features in childhood that are associated with premature aging.  Such features may include hair loss, growth retardation, joint degeneration, and atherosclerosis.  A vast majority of patients with HGPS have a LMNA G608G mutation, but other mutations in LMNA have been reported.

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder caused by LMNA mutations, which results in post-natal growth retardation, craniofacial and skeletal anomalies, and mottled cutaneous pigmentation.

Charcot-Marie-Tooth type 2B1 is an axonal autosomal recessive laminopathy and neuropathy, characterized predominantly by symmetrical distal muscle weakness and atrophy.  Individuals initially present with depressed or absent tendon reflexes with weakness of foot dorsiflexion at the ankle.

Familial partial lipodystrophy (FLPD), Dunnigan type, is an autosomal dominant disease caused by mutations in LMNA and characterized by the progressive loss of subcutaneous fat from the extremities

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