Dejerine-Sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible 'hot spot' on Ser72

Annals of Neurology

Volumn 43, Issue 5, 1998, Pages 680-683

  Marques Jr , Wilson ^a,d   Thomas, P K ^a,b   Sweeney, Mary G ^a   Carr, Lucinda ^c   Wood, Nicholas W ^a,e  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 17P; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AMINO ACID SUBSTITUTION; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; POINT MUTATION; SERINE;

EID: 15644368240     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430521     Document Type: Article

References (18)

1. Vallat JM, Sindou P, Preux PM, et al. Ultrastructural expression in inherited demyelinating neuropathies. Ann Neurol 1996;39:813-817
2. Nelis E, Van Broeckhoven and the European Collaborative Consortium. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP): a European collaborative study. Eur J Hum Genet 1996;4:25-33
3. Tyson J, Ellis D, Fairbrother U, et al. Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome. Brain 1996;120:47-63
4. Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, et al, eds. Peripheral Neuropathy. 3rd ed. Philadelphia: WB Saunders, 1993:1094-1136
5. Ouvrier RA, McLeod JG, Conchin TE. The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain 1978;110:121-148
6. Warner LE, Hiltz MJ, Appel SH, et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-460
7. Adlokofer K, Martini R, Aguzzi A, et al. Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice. Nat Genet 1995;11:274-280
8. Marrosu MG, Vaccargiu BS, Marrosu G, et al. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. Neurology 1997;48:489-493
9. Roa BB, Garcia CA, Pentao L, et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet 1993;5:189-194
10. Nelis E, Holmberg B, Adolfsson R, et al. PMP22 Thr(118)Met: Recessive CMT1 mutation or polymorphism? Nat Genet 1997;15:13-14 (Letter)
11. Nicholson GA, Valentijn LJ, Cherryson AK, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 1994;6:263-266
12. Roa BJ, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101
13. Snipes GJ, Suter U. Molecular anatomy and genetics of myelin proteins in the peripheral nervous system. J Anat 1995;186: 483-494
14. Valentijn LJ, Bolhuis PA, Zorn I, et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:166-170
15. Roa BB, Dyck PJ, Marks HG, et al. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993;5:269-272
16. Ionasescu V, Ionasescu R, Searby C, Neahring R. Dejerine-Sottas syndrome with de novo dominant point mutation of the PMP22 gene. Neurology 1995;45:1766-1767
17. Ionasescu V, Searby C, Greenberg SA. Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of PMP22 gene. J Med Genet 1996;33:1048-1049
18. Cooper DN, Krawczak M. Human Gene Mutation. Oxford: BIOS Scientific Publishers Limited, 1993