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Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

Content Provider	Springer Nature Link
Author	Rudnik Schöneborn, Sabine Botzenhart, Elke Eggermann, Thomas Senderek, Jan Schoser, Benedikt G. H. Schröder, Rolf Wehnert, Manfred Wirth, Brunhilde Zerres, Klaus
Copyright Year	2006
Abstract	The molecular basis of autosomal dominant spinal muscular atrophy (AD-SMA) is largely unknown. Because the phenotypic spectrum of diseases caused by LMNA mutations is extremely broad and includes myopathies, neuropathies, and cardiomyopathies designated as class 1 laminopathies, we sequenced the LMNA gene in index patients with the clinical picture of proximal SMA, who had a family history suggestive of autosomal dominant inheritance. Among the 19 families investigated, two showed pathogenic mutations of the LMNA gene, resulting in the diagnosis of a class 1 laminopathy in about 10% of our series. We found one novel truncating mutation (c.1477C > T, Q493X) and one previously described missense mutation (c.1130G > T, R377H) in the LMNA gene of two unrelated patients with adult-onset proximal SMA followed by cardiac involvement 14 and 22 years after the onset of weakness. The pedigrees of both families revealed a high frequency of cardiac abnormalities or sudden deaths. Our findings extend the spectrum of laminopathies and are of relevance for genetic counseling and clinical care of families presenting with adult-onset proximal SMA. Particularly, if neurogenic atrophy is combined with a cardiac disease in a family, this should prompt LMNA mutation analysis.
Starting Page	137
Ending Page	142
Page Count	6
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	8
Issue Number	2
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2006-11-29
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Autosomal dominant spinal muscular atrophy Emery–Dreifuss muscular dystrophy LMNA mutation Cardiac complications Molecular Medicine Human Genetics Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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