Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Kim, Hyeon Jin ^a   Hong, Young Bin ^a   Park, Jin Mo ^a   Choi, Yu Ri ^a   Kim, Ye Jin ^b   Yoon, Bo Ram ^b   Koo, Heasoo ^a   Yoo, Jeong Hyun ^a   Kim, Sang Beom ^c   Park, Minhwa ^d   Chung, Ki Wha ^b   Choi, Byung Ok ^a  

^a Ewha Womans University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

^c Kyung Hee University Hospital   (South Korea)

^d Ewha Womans University   (South Korea)

Author keywords

Charcot Marie Tooth disease (CMT); Exome; Family G member 5(PLEKHG5); Lower motor neuron disease (LMND); Neuropathy; Pleckstrin homology domain containing

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; PLECKSTRIN; PLECKSTRIN HOMOLOGY DOMAIN CONTAINING FAMILY G MEMBER 5; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILDHOOD; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; EXOME; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; LOWER LEG; MAJOR CLINICAL STUDY; NERVE BIOPSY; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SENSORY NEUROPATHY; SIGNAL TRANSDUCTION; SURAL NERVE; THIGH;

ADULT; AMINO ACID SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; FAMILY; FEMALE; GENES, RECESSIVE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; REPUBLIC OF KOREA; YOUNG ADULT;

EID: 84880032361     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-104     Document Type: Article

References (33)

1. A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L, Neurology 2006 67 120 124 10.1212/01.wnl. 0000223834.55225.2d 16728649 (Pubitemid 44305474)
2. The nuclear factor κB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C, Am J Hum Genet 2007 81 67 76 10.1086/518900 17564964 (Pubitemid 47001157)
3. Identification and characterization of a spinal muscular atrophy-determining gene. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Cell 1995 80 155 165 10.1016/0092-8674(95)90460-3 7813012
4. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V, Nat Genet 2004 36 602 606 10.1038/ng1354 15122254 (Pubitemid 38715987)
5. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K, Nat Genet 2004 36 271 276 10.1038/ng1313 14981520 (Pubitemid 38282752)
6. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH, Neurology 2012 78 1714 1720 10.1212/WNL. 0b013e3182556c05 22459677
7. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW, Neurology 2010 74 502 506 10.1212/WNL.0b013e3181cef84a 20142617
8. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M, Am J Hum Genet 2012 91 139 145 10.1016/j.ajhg.2012.05.007 22703882
9. Defective presynaptic choline transport underlies hereditary motor neuropathy. Barwick KES, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH, Am J Hum Genet 2012 91 1103 1107 10.1016/j.ajhg.2012.09.019 23141292
10. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JFB, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY, Am J Hum Genet 2010 86 343 352 10.1016/j.ajhg.2010.01.027 20170900
11. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Chen Y-Z, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF, Am J Hum Genet 2004 74 1128 1135 10.1086/421054 15106121 (Pubitemid 38669312)
12. The distal hereditary motor neuropathies. Rossor AM, Kalmar B, Greensmith L, Reilly MM, J Neurol Neurosurg Psychiatry 2012 83 6 14 10.1136/jnnp-2011- 300952 22028385
13. Hereditary motor and sensory neuropathies: a biological perspective. Shy ME, Garbern JY, Kamholz J, Lancet Neurol 2002 1 110 118 10.1016/S1474-4422(02) 00042-X 12849515 (Pubitemid 37163496)
14. Inherited Peripheral Neuropathies Mutation Database [ http://www.molgen.ua.ac.be/CMTMutations/mutations ]
15. The clinical features of hereditary motor and sensory neuropathy types I and II. Harding AE, Thomas PK, Brain 1980 103 259 280 10.1093/brain/103.2.259 7397478 (Pubitemid 10046623)
16. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. Davis CJ, Bradley WG, Madrid R, J Genet Hum 1978 26 311 349 752065 (Pubitemid 9105781)
17. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Nicholson G, Nash J, Neurology 1993 43 2264 2558
18. Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. Nicholson G, Myers S, Neuromolecular Med 2006 8 123 130 16775371
19. The DH and PH domains of Trio coordinately engage Rho GTPases for their efficient activation. Chhatriwala MK, Betts L, Worthylake DK, Sondek J, J Mol Biol 2007 368 1307 1320 10.1016/j.jmb.2007.02.060 17391702 (Pubitemid 46617588)
20. Large-scale identification and characterization of human genes that activate NF-κB and MAPK signaling pathways. Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y, Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H, Sugano S, Oncogene 2003 22 3307 3318 10.1038/sj.onc.1206406 12761501 (Pubitemid 36712943)
21. Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR. Choi BO, Kim J, Lee KL, Yu JS, Hwang JH, Chung KW, Mol Cells 2007 23 39 48 17464210 (Pubitemid 46443896)
22. Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. Lee SS, Lee HJ, Park JM, Hong YB, Park KD, Yoo JH, Koo H, Jung SC, Park HS, Lee JH, Lee MG, Hyun YS, Nakhro K, Chung KW, Choi BO, JAMA Neurol 2013 70 607 615 23553329
23. dbSNP137 [ http://www.ncbi.nlm.nih.gov/snp/ ]
24. 1000 Genomes database [ http://www.1000genomes.org/ ]
25. MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Tamura K, Peterson D, Peterson N, Stecher G, Nei M, Kumar S, Mol Biol Evol 2011 28 2731 2739 10.1093/molbev/msr121 21546353
26. Reliability and validity of the CMT neuropathy score as a measure of disability. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M, Neurology 2005 64 1209 1214 10.1212/01.WNL.0000156517.00615. A3 15824348
27. PolyPhen2 [ http://genetics.bwh.harvard.edu/pph2/ ]
28. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A, Hum Mutat 1997 10 443 452 10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E 9401007 (Pubitemid 27523056)
29. Regulation of the DH-PH tandem of guanine nucleotide exchange factor for Rho GTPases by phosphoinositides. Viaud J, Gaits-Iacovoni F, Payrastre B, Adv Biol Regul 2012 52 303 314 10.1016/j.jbior.2012.04.001 22781744
30. NF-κB functions in the nervous system: from development to disease. Memet S, Biochem Pharmacol 2006 72 1180 1195 10.1016/j.bcp.2006.09.003 16997282 (Pubitemid 44465848)
31. A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings. Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P, Guicheney P, Neuromuscul Disord 2008 18 334 338 10.1016/j.nmd.2008.01.005 18394888
32. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorie H, Rudnik-Schoneborn S, Buttner R, Buchheim E, Zerres K, Hum Mol Genet 2003 12 345 356
33. Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration. Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE, Neurochem Int 2007 51 74 84 10.1016/j.neuint. 2007.04.010 17566607 (Pubitemid 47176699)