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Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
J Hum Genet. 2009 Feb; 54(2):94-7.JH

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.

Authors+Show Affiliations

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19158810

Citation

Abe, Akiko, et al. "Neurofilament Light Chain Polypeptide Gene Mutations in Charcot-Marie-Tooth Disease: Nonsense Mutation Probably Causes a Recessive Phenotype." Journal of Human Genetics, vol. 54, no. 2, 2009, pp. 94-7.
Abe A, Numakura C, Saito K, et al. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet. 2009;54(2):94-7.
Abe, A., Numakura, C., Saito, K., Koide, H., Oka, N., Honma, A., Kishikawa, Y., & Hayasaka, K. (2009). Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. Journal of Human Genetics, 54(2), 94-7. https://doi.org/10.1038/jhg.2008.13
Abe A, et al. Neurofilament Light Chain Polypeptide Gene Mutations in Charcot-Marie-Tooth Disease: Nonsense Mutation Probably Causes a Recessive Phenotype. J Hum Genet. 2009;54(2):94-7. PubMed PMID: 19158810.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. AU - Abe,Akiko, AU - Numakura,Chikahiko, AU - Saito,Kayoko, AU - Koide,Hiroyoshi, AU - Oka,Nobuyuki, AU - Honma,Akira, AU - Kishikawa,Yumiko, AU - Hayasaka,Kiyoshi, Y1 - 2009/01/16/ PY - 2009/1/23/entrez PY - 2009/1/23/pubmed PY - 2010/2/4/medline SP - 94 EP - 7 JF - Journal of human genetics JO - J. Hum. Genet. VL - 54 IS - 2 N2 - 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. SN - 1435-232X UR - https://www.unboundmedicine.com/medline/citation/19158810/Neurofilament_light_chain_polypeptide_gene_mutations_in_Charcot_Marie_Tooth_disease:_nonsense_mutation_probably_causes_a_recessive_phenotype_ L2 - http://www.diseaseinfosearch.org/result/1276 DB - PRIME DP - Unbound Medicine ER -