Two families with novel PMP22 point mutations: Genotype-phenotype correlation

Journal of the Peripheral Nervous System

Volumn 14, Issue 3, 2009, Pages 208-212

  Pisciotta, Chiara ^a   Manganelli, Fiore ^a   Iodice, Rosa ^a   Bellone, Emilia ^a   Geroldi, Alessandro ^b   Volpi, Nila ^b   Mandich, Paola ^c   Santoro, Lucio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EARLY GROWTH RESPONSE FACTOR 2; PERIPHERAL MYELIN PROTEIN 22;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; CHILD; DEMYELINATION; ELECTROPHYSIOLOGY; FAMILY; FEMALE; GENE SEQUENCE; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; LETTER; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; NERVE BIOPSY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SURAL NERVE;

ACTION POTENTIALS; ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FEMALE; GENOTYPE; HUMANS; MALE; MYELIN PROTEINS; NEURAL CONDUCTION; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 70449481729     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2009.00235.x     Document Type: Letter

References (17)

1. Abe KT, Lino AM, Hirata MT, Pavanello RC, Brotto MW, Marchiori PE, Zatz M (2004). A novel stop codon mutation in the PMP22 gene associated with a variable phenotype. Neuromuscul Disord 14 : 313 320.
2. Bort S, Sevilla T, García-Planells J, Blesa D, Paricio N, Vílchez JJ, Prieto F, Palau F (1998). Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene. Hum Mutat 1 : S95-S98.
3. Gabreëls-Festen AA (2002). Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. J Anat 200 : 341 356.
4. Gabreëls-Festen AA, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJ, Gabreëls FJ (1995). Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol 90 : 645 649.
5. Henry EW, Cowen JS, Sidman RL (1983). Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination. J Neuropathol Exp Neurol 42 : 688 706.
6. Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP, Latham ID, Chase JM, Fisher EM, Bouzyk MM, Potter A, Masih M, Walsh FS, Sims MA, Doncaster KE, Parsons CA, Martin J, Brown SD, Rastan S, Spurr NK, Gray IC (2000). Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy. Hum Mol Genet 22 : 1865 1871.
7. Isaacs AM, Jeans A, Oliver PL, Vizor L, Brown SD, Hunter AJ, Davies KE (2002). Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Mol Cell Neurosci 21 : 114 125.
8. Naef R, Suter U (1999). Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol Dis 6 : 1 14.
9. Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K (2002). Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. Hum Mutat 20 : 392 398.
10. Reilly MM (2007). Sorting out the inherited neuropathies. Pract Neurol 7 : 93 105.
11. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993). Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329 : 96 101. (Pubitemid 23188823)
12. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M (2005). Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64 : 1209 1214.
13. Suter U, Moskow JJ, Welcher AA, Snipes GJ, Kosaras B, Sidman RL, Buchberg AM, Shooter EM (1992a). A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci USA 89 : 4382 4386.
14. Suter U, Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, Billings-Gagliardi S, Sidman RL, Shooter EM (1992b). Trembler mouse carries a point mutation in a myelin gene. Nature 356 : 241 244.
15. Tobler AR, Liu N, Mueller L, Shooter EM (2002). Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22. Proc Natl Acad Sci USA 99 : 483 488.
16. Tobler AR, Notterpek L, Naef R, Taylor V, Suter U, Shooter EM (1999). Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction. J Neurosci 19 : 2027 2036.
17. Tyson J, Ellis D, Fairbrother U, King RH, Muntoni F, Jacobs J, Malcolm S, Harding AE, Thomas PK (1997). Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain 120 : 47 63.