laminopathies - CMT 2 gene research news

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Abstract from Neuromuscul Disord. 2005 Jan;15(1):40-4.

(Note: this includes CMT Type 2)

Deletion of the LMNA initiator codon leading to a neurogenic variant of

autosomal dominant Emery-Dreifuss muscular dystrophy.

Walter MC, Witt TN, Weigel BS, Reilich P, P, Pongratz D, Bonne G,

Wehnert MS, Lochmuller H.

Friedrich-Baur-Institute, Gene Center and Department of Neurology,

Ludwig-Maximilians-University of Munich, Munich, Germany.

Mutations in the LMNA gene encoding the nuclear envelope protein, lamins A and

C, have been associated with at least nine distinct disorders now called

laminopathies, including Emery-Dreifuss muscular dystrophy and

Charcot-Marie-Tooth type 2 disease. We identified a novel mutation in the 5'

region of the LMNA gene -3del15, resulting in the loss of 15 nucleotides from -3

to +12, including the translation ATG initiator codon. The mutation segregates

in a previously described family with a clinical phenotype that shared features

of both Emery-Dreifuss muscular dystrophy and Charcot-Marie-Tooth type 2. Thus,

the mutation with this unique phenotypical expression represents the first

example for a link between the neurogenic and myogenic phenotypes and extends

the clinical variability of laminopathies.