Abstract:
:The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GDAP1, MTMR2 and PRX in the demyelinating form and negative for MFN2, MPZ, GJB1, HSP27, HSP22 and GARS in the axonal form. We detected four heterozygous missense mutations--Pro8Leu, Glu90Lys, Asn98Ser and Glu396Lys--in five unrelated patients and a homozygous nonsense mutation, Glu140Stop, in one other patient. All patients had mildly to moderately delayed nerve conduction velocities, possibly caused by a loss of large diameter fibers. This is the first report of a homozygous nonsense mutation of NEFL. Results of our study show that nonsense NEFL mutations probably cause a recessive phenotype, in contrast to missense mutations, which cause a dominant phenotype.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Abe A,Numakura C,Saito K,Koide H,Oka N,Honma A,Kishikawa Y,Hayasaka Kdoi
10.1038/jhg.2008.13subject
Has Abstractpub_date
2009-02-01 00:00:00pages
94-7issue
2eissn
1434-5161issn
1435-232Xpii
jhg200813journal_volume
54pub_type
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