Evolution of the phenotype in a family with an LMNA gene mutation presenting wit

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Muscle Nerve. 2010 Jan;41(1):85-91.

Evolution of the phenotype in a family with an LMNA gene mutation presenting

with isolated cardiac involvement.

Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli

S, Orrù P, Marrosu MG.

Neuromuscular Unit, Department of Cardiological and Neurological Sciences,

University of Cagliari, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126 Cagliari,

Italy.

The aim of this study is to report the evolution of a phenotype in members of a

single family carrying the heterozygous exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene

mutation. All mutated family members underwent neurological and cardiological

assessments for a period ranging from 10 to 20 years.

At onset, 4 affected adult members presented a phenotype that required pacemaker

implantation. Three subjects underwent cardiac transplantation leading to

long-term survival in 2 of them. One of the 3 longest surviving relatives

manifested late lipodystrophy, and the other 2 had lipodystrophy,

insulin-resistant diabetes, and distal peripheral neuropathy.

The findings demonstrate that the exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene

mutation is associated with a novel phenotype featuring cardiac involvement

followed by late lipodystrophy, diabetes, and peripheral axonal neuropathy.