CMT 1 / HMSN caused by novel mutation in LITAF

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Neuromuscul Disord. 2009 Jun 19.

Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF.

Gerding WM, Koetting J, Epplen JT, Neusch C.

Human Genetics, Ruhr-University, MA 5/39, 44780 Bochum, Germany.

Hereditary motor-sensory neuropathy (HMSN) Type 1/CMT 1 is a disorder of the

peripheral nervous system. The underlying genetic cause is heterogeneous, and

mutations in LITAF (Lipopolysaccharide-induced TNF-alpha factor) represent a

rare cause of CMT Type 1.

In this report, a novel missense mutation is presented in the LITAF gene

(c.430G>A p.V144M) in a German CMT family exhibiting typical

electrophysiological features of a demyelinating neuropathy with conduction

blocks and variable age at onset.

Molecular genetic characterization of demyelinating HMSN should therefore

include screening of the LITAF gene if typical signs of a non-homogenous

demyelinating neuropathy combined with dominant familial occurrence are evident.