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Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

Journal of human genetics, 2009-02, Vol.54 (2), p.94-97 [Peer Reviewed Journal]

The Japan Society of Human Genetics 2009. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/jhg.2008.13 ;PMID: 19158810

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Title:
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype
Author: Abe, Akiko ; Numakura, Chikahiko ; Saito, Kayoko ; Koide, Hiroyoshi ; Oka, Nobuyuki ; Honma, Akira ; Kishikawa, Yumiko ; Hayasaka, Kiyoshi
Subjects: Adolescent ; Adult ; Axons ; Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth Disease - genetics ; Child, Preschool ; Codon, Nonsense - genetics ; Demyelination ; Egr-2 protein ; Female ; Genes, Recessive ; Genotype & phenotype ; Hsp27 protein ; Humans ; Male ; Missense mutation ; Mutation ; Nerve conduction ; Neurofilament Proteins - genetics ; Nonsense mutation ; Peripheral myelin protein 22 ; Phenotype ; Phenotypes ; Polypeptides
Is Part Of: Journal of human genetics, 2009-02, Vol.54 (2), p.94-97
Description: 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.
Publisher: England: Nature Publishing Group
Language: English
Identifier: ISSN: 1434-5161
EISSN: 1435-232X
DOI: 10.1038/jhg.2008.13
PMID: 19158810
Source: MEDLINE
ProQuest Central

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Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

The Japan Society of Human Genetics 2009. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/jhg.2008.13 ;PMID: 19158810

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