Mutations in the LMNA gene do not cause axonal CMT in Czech patients

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J Hum Genet. 2009 May 8.

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

Laššuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K,

Rautenstrauss B, Seeman P.

DNA Laboratory, Department of Child Neurology, 2nd School of Medicine,

University Prague, Prague, Czech Republic.

The LMNA gene was sequenced in 98 Czech patients from 94 unrelated families with

early-onset axonal Charcot-Marie-Tooth (CMT) disease consistent with both

autosomal recessive inheritance and sporadic cases. Biallelic pathogenic

mutations were not found in any patient in this group.

One patient carried the c.1870C>T mutation that is predicted to result in the

amino-acid substitution, p. Arg624Cys, on one allele, but the second causative

mutation was not detected. LMNA mutation is not likely to be associated with the

disease in this family.

To exclude larger deletions/duplications in the LMNA gene not detectable by

sequencing, 48 patients from this group were also analyzed with multiplex

ligation-dependent probe amplification. No rearrangements in the LMNA gene were

detected.

We conclude that mutations in the LMNA gene are absent from a large group of

Czech patients with axonal autosomal recessive CMT disease. Consequently, LMNA

mutation screening does not seem to be relevant for axonal CMT DNA diagnostics.

A similar situation may apply to other European populations.