Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF.
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.
Gerding
Wanda Maria
WM
Human Genetics, Ruhr-University, MA 5/39, Bochum 44780, Germany. wanda.gerding@rub.de
Koetting
Judith
J
Epplen
Jörg Thomas
JT
Neusch
Clemens
C
D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000503:physiopathology; D003937:Diagnosis, Differential; D005190:Family; D005260:Female; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009407:Nerve Block; D009431:Neural Conduction; D009687:Nuclear Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
C118738:LITAF protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors