Mutation screening of the N-myc downstream. Regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth disease

Human Mutation

Volumn 22, Issue 2, 2003, Pages 129-135

  Hunter, Michael ^a   Bernard, Rafaëlle ^b   Freitas, Elizabeth ^c   Boyer, Amandine ^b   Morar, Bharti ^a   Martins, Ian J ^a   Tournev, Ivailo ^d,e   Jordanova, Albena ^d   Guergelcheva, Velina ^d   Ishpekova, Boryana ^d   Kremensky, Ivo ^d   Nicholson, Garth ^f   Schlotter, Beate ^g   Lochmüller, Hanns ^g   Voit, Thomas ^h   Colomer, Jaume ⁱ   Thomas, P K ^j   Levy, Nicolas ^b,k   Kalaydjieva, Luba ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b TIMONE HOSPITAL   (France)

^c EDITH COWAN UNIVERSITY   (Australia)

^d MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^e Ethnic Minorities Health Problems Foundation   (Bulgaria)

^f UNIVERSITY OF SYDNEY   (Australia)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁱ HOSPITAL SANT JOAN DE DÉU   (Spain)

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

^k INSERM   (France)

more..

Author keywords

Charcot Marie Tooth Disease; CMT; Hereditary motor and sensory neuropathy, Lom; HMSNL; N myc downstream regulated gene 1; NDRG1; Neuropathy; SNP

Indexed keywords

ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DEMYELINATING DISEASE; DNA SPLICING; ETHNOLOGY; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC CORRELATION; GENETIC DISORDER; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONCOGENE C MYB; PATHOGENESIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; CELL CYCLE PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES;

EID: 10744230903     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10240     Document Type: Article

References (34)

1. Antonarakis S. 1998. Recommendations for a nomenclature system for human gene mutations. Nomenclature working group. Hum Mutat 11:1-3.
2. Baethmann M, Gohlich-Ratmann G, Schroder JM, Kalaydjieva L, Voit T. 1998. HMSNL in a 13-year-old Bulgarian girl. Neuromuscular Disord 8:90-94.
3. Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM. 2002. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Gen 30:21-22.
4. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. 2002. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 51:190-210.
5. Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. 2001. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics 3:107-109.
6. Butinar D, Zidar J, Leonardis L, Popovic M, Kalaydjieva L, Angelicheva D, Sininger Y, Keats B, Starr A. 1999. Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred. Ann Neurol 46:36-44.
7. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES. 1999. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 22:231-238.
8. Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P, de Jonge R, Baas F, Dye D, Karagyozov L, Savov A, Blechschmidt K, Keats B, Thomas PK, King RH, Starr A, Nikolova A, Colomer J, Ishpekova B, Tournev I, Urtizberea JA, Merlini L, Butinar D, Chabrol B, Voit T, Baethmann M, Nedkova V, Corches A, Kalaydjieva L. 2000. Hereditary motor and sensory neuropathy-lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscular Disord 10:584-591.
9. Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F. 2002. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Gen 30:22-25.
10. Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF. 1993a. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene. Nat Genet 5:31-34.
11. Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai, Y. 1993b. Mutation of the myelin P0 gene in the Charcot-Marie-Tooth neuropathy type 1. Biochem Biophys Res Commun 194: 1317-1322.
12. Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. 1996. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Gen 14:214-217.
13. Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK. 1998. Hereditary motor and sensory neuropathy-lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 121:399-408.
14. Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. 2000. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-lom. Am J Hum Genet 67:47-58.
15. Kalaydjieva L, King R, Gresham D, Molnar M, Tournev I, Angelicheva D, Butinar D, Colomer J, Corches A, Lupu C, Merlini M, Zanetti M, Bergonzoni C, Thomas PK. 2001. Hereditary motor and sensory neuropathy lom. Acta Myologica 20:192-201.
16. King RH, Tournev I, Colomer J, Merlini L, Kalaydjieva L, Thomas PK. 1999. Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-lom. Neuropathol Appl Neurobiol 25:306-312.
17. Kokame K, Kato H, Miyata T. 1996. Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis. GRP78/BiP and novel genes. J Biol Chem 271:29659-29665.
18. Kurdistani SK, Arizti P, Reimer CL, Sugrue MM, Aaronson SA, Lee SW. 1998. Inhibition of tumor cell growth by RTP/rit42 and its responsiveness to p53 and DNA damage. Cancer Res 58:4439-4444.
19. Morocutti C, Colazza GB, Soldati G, D'Alessio C, Damiano M, Casali C, Pierelli F. 2002. Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study. Neur Epid 21:241-245.
20. Piquemal D, Joulia D, Balaguer P, Basset A, Marti J, Commes T. 1999. Differential expression of the RTP/Drg1/Ndr1 gene product in proliferating and growth arrested cells. Biochim Biophys Acta 1450:364-373.
21. Rost B. 1996. Predicting one-dimensional protein structure by profile based neural networks. Meth Enzym 266:525-539.
22. Rozas J, Rozas R. 1999. DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis. Bioinformatics 15:174-175.
23. Schneider JA, Pungliya MS, Choi JY, Jiang R, Sun XJ, Salisbury BA, Stephens JC. 2003. DNA variability of human genes. Mech Ageing Dev 124:17-25.
24. Shaw E, McCue LA, Lawrence CE, Dordick JS. 2002. Identification of a novel class in the a/b hydrolase fold superfamily: the N-myc differentiation-related proteins. Proteins: Struct Funct Genet 47:163-168.
25. Shimono A, Okuda T, Kondoh H. 1999. N-myc-dependent repression of ndrl, a gene identified by direct subtraction of whole mouse embryo cDNAs between wild type and N-myc mutant. Mech Dev 83:39-52.
26. Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schroder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. 2002. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol 51:709-715.
27. Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C. 1999. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 52:1827-1832.
28. Van Belzen N, Dinjens WN, Diesveld MP, Groen NA, van der Made AC, Nozawa Y, Vlietstra R, Trapman J, Bosman FT. 1997. A novel gene which is up-regulated during colon epithelial cell differentiation and down-regulated in colorectal neoplasms. Lab Invest 77:85-92.
29. Vance J. 2000. The many faces of Charcot-Marie-Tooth disease. Arch Neurol 57:638-640.
30. Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodny EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR. 1996. Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17:451-460.
31. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. 1998. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382-384.
32. Warner LE, Svaren J, Milbrandt J, Lupski JR. 1999. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Molec Genet 8:1245-1251.
33. Xu B, Lin L, Rote NS. 1999. Identification of a stress-induced protein during human trophoblast differentiation by differential display analysis. Biol Repro 61:681-686.
34. Zhou D, Salnikow K, Costa M. 1998. Cap43, a novel gene specifically induced by Ni2+ compounds. Cancer Res 58: 2182-2189.