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

Journal of Human Genetics

Volumn 54, Issue 2, 2009, Pages 94-97

  Abe, Akiko ^a   Numakura, Chikahiko ^a   Saito, Kayoko ^b   Koide, Hiroyoshi ^c   Oka, Nobuyuki ^d   Honma, Akira ^e   Kishikawa, Yumiko ^a   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c Hallo Clinic   (Japan)

^d National Hospital Organization Minami Kyoto Hospital   (Japan)

^e Honma Child Clinic   (Japan)

Author keywords

Charcot Marie Tooth disease; NEFL; Neurofilament

Indexed keywords

NEUROFILAMENT LIGHT CHAIN POLYPEPTIDE; POLYPEPTIDE; UNCLASSIFIED DRUG; NEUROFILAMENT PROTEIN; NEUROFILAMENT PROTEIN L; STOP CODON;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; DEMYELINATION; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; RECESSIVE INHERITANCE; GENETICS; PHENOTYPE; PRESCHOOL CHILD; RECESSIVE GENE; STOP CODON;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; GENES, RECESSIVE; HUMANS; MALE; NEUROFILAMENT PROTEINS; PHENOTYPE;

EID: 60749123443     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2008.13     Document Type: Article

References (21)

1. Dyck, P. J., Chance, P., Lebo, R. & Carney, J. A. Hereditary motor and sensory neuropathies. In Peripheral Neuropathy (Dyck P. J., Thomas P. K., Griffin J. W., Low P. A., Poduslo J. F. eds). 1096-1136 (Saunders, Philadelphia, 1993).
2. Lee, M. K. & Cleveland, D. W. Neuronal intermediate filaments. Annu. Rev. Neurosci. 19, 187-217 1996.
3. Grant, P. & Pant, H. C. Neurofilament protein synthesis and phosphorylation. J. Neurocytol. 29, 843-872 2000.
4. Waxman, S. G. Determinants of conduction velocity in myelinated nerve fibers. Muscle Nerve 3, 141-150 1980.
5. Sakaguchi, T., Okada, M., Kitamura, T. & Kawasaki, K. Reduced diameter and conduction velocity of myelinated fibers in the sciatic nerve of a neurofilament-deficient mutant quail. Neurosci. Lett. 153, 65-68 1993.
6. Eyer, J. & Peterson, A. Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta- galactosidase fusion protein. Neuron 12, 389-405 1994.
7. Mersiyanova, I. V., Perepelov, A. V., Polyakov, A. V., Sitnikov, V. F., Dadali, E. L., Oparin, R. B. et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum. Genet. 67, 37-46 2000.
8. Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C. et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126, 590-597 2003.
9. Harding, A. E. & Thomas, P. K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103, 259-280 1980.
10. Yoshihara, T., Yamamoto, M., Hattori, N., Misu, K., Mori, K., Koike, H. et al. Identification of novel sequence variant in the neurofilament light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J. Peripher. Nerv. Syst. 7, 221-224 2002.
11. Choi, B. O., Lee, M. S., Shin, S. H., Hwang, J. H., Choi, K. G., Kim, W. K. et al. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum. Mutat. 24, 185-186 2004.
12. Züchner, S., Vorgerd, M., Sindern, E. & Schröder, J. M. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscul. Disord. 14, 147-157 2004.
13. Leung, C. L., Nagan, N., Graham, T. H. & Liem, R. K. A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease. Am. J. Med. Genet. A 140, 1021-1025 2006.
14. Brownlees, J., Ackerley, S., Grierson, A. J., Jacobsen, N. J., Shea, K., Anderton, B. H. et al. Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum. Mol. Genet. 11, 2837-2844 2002.
15. Pérez-Ollé, R., López-Toledano, M. A., Goryunov, D., Cabrera-Poch, N., Stefanis, L., Brown, K. et al. Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport. J. Neurochem. 93, 861-874 2005.
16. Sasaki, T., Gotow, T., Shiozaki, M., Sakaue, F., Saito, T., Julien, J. P. et al. Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants. Hum. Mol. Genet. 15, 943-952 2006.
17. Ohara, O., Gahara, Y., Miyake, T., Teraoka, H. & Kitamura, T. Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene. J. Cell. Biol. 121, 387-395 1993.
18. Andrigo, C., Boito, C., Prandini, P., Mostacciuolo, M. L., Siciliano, G., Angelini, C. et al. A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. Neurogenetics 6, 49-50 2005.
19. Zhu, Q., Couillard-Després, S. & Julien, J. P. Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp. Neurol. 148, 299-316 1997.
20. Previtali, S. C., Zerega, B., Sherman, D. L., Brophy, P. J., Dina, G., King, R. H. et al. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum. Mol. Genet. 12, 1713-1723 2003.
21. Bolino, A., Muglia, M., Conforti, F. L., LeGuern, E., Salih, M. A., Georgiou, D. M. et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat. Genet. 25, 17-19 2000.