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Multitissular involvement in a family with LMNA EMD Role of digenic mechanism?

Multitissular involvement in a family with LMNA EMD Role of digenic mechanism? ARTICLES Multitissular involvement in a family with LMNA and EMD mutations Role of digenic mechanism? R. Ben Yaou, MD ABSTRACT Background: Mutations in the EMD and LMNA genes, encoding emerin and lamins A and C, A. Toutain, MD are responsible for the X-linked and autosomal dominant and recessive forms of Emery–Dreifuss mus- T. Arimura, PhD cular dystrophy (EDMD). LMNA mutations can also lead to several other disorders, collectively termed L. Demay laminopathies, involving heart, fat, nerve, bone, and skin tissues, and some premature ageing syn- C. Massart dromes. Methods: Fourteen members of a single family underwent neurologic, electromyographic, and C. Peccate cardiologic assessment. Gene mutation and protein expression analyses were performed for lamins A. Muchir, PhD A/C and emerin. Results: Clinical investigations showed various phenotypes, including isolated cardiac S. Llense disease (seven patients), axonal neuropathy (one patient), and a combination of EDMD with axonal N. Deburgrave neuropathy (two patients), whereas five subjects remained asymptomatic. Genetic analyses identified F. Leturcq, MD the coincidence of a previously described homozygous LMNA mutation (c.892C¡T, p. R298C) and a K.E. Litim, MD new in-frame EMD deletion (c.110-112delAGA, p. delK37), which segregate independently. Analyses N. Rahmoun-Chiali, of the contribution of these mutations showed 1) the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Neurology Wolters Kluwer Health

Multitissular involvement in a family with LMNA EMD Role of digenic mechanism?

Bonne, G
Neurology , Volume 68 (22) – May 1, 2007
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References (43)

ISSN
0028-3878
eISSN
1526-632X
DOI
10.1212/01.wnl.0000263138.57257.6a
pmid
17536044
Publisher site
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Abstract

ARTICLES Multitissular involvement in a family with LMNA and EMD mutations Role of digenic mechanism? R. Ben Yaou, MD ABSTRACT Background: Mutations in the EMD and LMNA genes, encoding emerin and lamins A and C, A. Toutain, MD are responsible for the X-linked and autosomal dominant and recessive forms of Emery–Dreifuss mus- T. Arimura, PhD cular dystrophy (EDMD). LMNA mutations can also lead to several other disorders, collectively termed L. Demay laminopathies, involving heart, fat, nerve, bone, and skin tissues, and some premature ageing syn- C. Massart dromes. Methods: Fourteen members of a single family underwent neurologic, electromyographic, and C. Peccate cardiologic assessment. Gene mutation and protein expression analyses were performed for lamins A. Muchir, PhD A/C and emerin. Results: Clinical investigations showed various phenotypes, including isolated cardiac S. Llense disease (seven patients), axonal neuropathy (one patient), and a combination of EDMD with axonal N. Deburgrave neuropathy (two patients), whereas five subjects remained asymptomatic. Genetic analyses identified F. Leturcq, MD the coincidence of a previously described homozygous LMNA mutation (c.892C¡T, p. R298C) and a K.E. Litim, MD new in-frame EMD deletion (c.110-112delAGA, p. delK37), which segregate independently. Analyses N. Rahmoun-Chiali, of the contribution of these mutations showed 1) the

Journal

Neurology – Wolters Kluwer Health

Published: May 1, 2007

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