IPN Mutations
Reference
| Title |
Connexin32 and X-linked Charcot-Marie-Tooth disease. |
| Authors |
Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS |
| Reference |
Neurobiol Dis 4: 221-230, 1997
(PubMed ID:
9361298
)
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GJB1 (Cx32):
(Val13Met)
(Asn14Lys)
(His16Pro)
(Ile20Ser)
(Gly21Asp)
(Arg22Gln)
(Ser26Leu)
(Ile28Asn)
(Ile28Thr)
(Phe29Leu)
(Met34Val)
(Glu41Lys)
(Trp44Leu)
(Val63Ile)
(Arg75Trp)
(Arg75Pro)
(Trp77X)
(Gln80X)
(Ser85Phe)
(Thr86Ser)
(Thr86Asn)
(Pro87Leu)
(His94Tyr)
(His94Gln)
(Val95Met)
(His100Tyr)
(Lys103Glu)
(Arg107Trp)
(Lys124fs)
(Lys124Asn)
(Ser128Pro)
(Arg142Gln)
(Tyr154X)
(Tyr157Cys)
(Pro158Arg)
(Tyr160His)
(Ala161Pro)
(Arg164Gln)
(Pro172Leu)
(Asp178Tyr)
(Cys179Arg)
(Phe180Leu)
(Val181Met)
(Arg183Cys)
(Arg183His)
(Thr185del)
(Lys187Glu)
(Val189Ile)
(Val189Gly)
(Thr191_Phe193del)
(Thr191fs)
(Thr191_Phe193del)
(Phe193Cys)
(Ser198Phe)
(Cys201Arg)
(Leu204Val)
(Asn205Ser)
(Arg219Cys)
(Arg219His)
(Arg220Gly)
(Arg230Cys)
(Arg230Leu)
(Phe235Cys)
(Pro267fs)
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Mutations
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Reference
| Title |
3rd workshop of the European CMT consortium: 54th ENMC international workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28-30 November 1997, Naarden, The Netherlands. |
| Authors |
Haites NE, Nelis E, Van Broeckhoven C |
| Reference |
Neuromuscul Disord 8: 591-603, 1998
(PubMed ID:
10093067
)
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PMP22:
(Leu19Pro)
(Trp61X)
(Thr118Met)
MPZ (P0):
(Val32Phe)
(Ser54Cys)
(Asp75fs)
(Ser78Leu)
(Tyr82Cys)
(Arg98Cys)
(Ile99Thr)
(Ile112Thr)
(Asp128Glu)
(Thr143Met)
(Ser226fs)
GJB1 (Cx32):
(Thr8Pro)
(Ser11Gly)
(Arg15Gln)
(Arg22X)
(Arg22Gln)
(Ser26X)
(Ser26Leu)
(Ile30Asn)
(Phe31_Arg32insIlePhe)
(Ala39Pro)
(Ala39Val)
(Val43Met)
(Gly59Cys)
(Cys60Phe)
(Val63Ile)
(Asp66del)
(Ile71fs)
(Arg75Gln)
(Leu81Phe)
(Leu83Pro)
(Val95Met)
(Met105fs)
(Arg107Trp)
(Trp132fs)
(Tyr135Cys)
(Val139Met)
(Phe149Ile)
(Pro158Ser)
(Arg164Trp)
(Cys173Arg)
(Glu186Lys)
(Glu208Lys)
(Glu254fs)
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Mutations
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Reference
| Title |
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. |
| Authors |
Ionasescu V, Ionasescu R, Searby C |
| Reference |
Am J Med Genet 63: 486-491, 1996
(PubMed ID:
8737658
)
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GJB1 (Cx32):
(Trp3Arg)
(Trp3Ser)
(Arg22X)
(Arg22Gln)
(Trp77Ser)
(Gln80Arg)
(Glu102Gly)
(His111_His116del)
(Arg142Trp)
(Arg164Trp)
(Glu186X)
(Glu186fs)
(Cys217X)
(Arg220X)
(Arg265fs)
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Mutations
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Reference
| Title |
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. |
| Authors |
Nelis E, Van Broeckhoven C, coauthors |
| Reference |
Eur J Hum Genet 4: 25-33, 1996
(PubMed ID:
8800924
)
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PMP22:
(CMT1A duplication)
(HNPP deletion)
MPZ (P0):
(Gly163Arg)
(Gly167Arg)
GJB1 (Cx32):
(Arg15Trp)
(Arg22Gln)
(Ala40Val)
(Leu56Phe)
(His73fs)
(Met93Val)
(Thr130fs)
(Val139Met)
(Arg142Trp)
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Mutations
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Reference
| Title |
X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln). |
| Authors |
Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schroder JM |
| Reference |
Acta Neuropathol (Berl) 95: 443-449, 1998
(PubMed ID:
9600589
)
|
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GJB1 (Cx32):
(Arg15Trp)
(Arg22Gln)
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Mutations
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Reference
| Title |
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. |
| Authors |
Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus ML |
| Reference |
Hum Genet 100: 391-397, 1997
(PubMed ID:
9272161
)
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GJB1 (Cx32):
(Arg22Gln)
(Arg75Trp)
(Arg75Gln)
(Arg107Trp)
(Val139Met)
(Met194Val)
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Mutations
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Reference
| Title |
Laboratory Service provision in the South West of England - two years' experience. |
| Authors |
Williams MM, Tyfield LA, Jardine P, Lunt PW, Stevens DL, Turnpenny PD |
| Reference |
Ann N Y Acad Sci 883: 500-503, 1999 |
|
GJB1 (Cx32):
(Arg22Gln)
(Ala39Val)
(Val43Met)
(Lys104Thr)
(Val139Met)
(Arg142Trp)
(Arg142Gln)
(Phe149Val)
(Val177Glu)
(Arg220X)
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Mutations
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Reference
| Title |
Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1). |
| Authors |
Matsuyama W, Nakagawa M, Moritoyo T, Takashima H, Umehara F, Hirata K, Suehara M, Osame M |
| Reference |
J Hum Genet 46: 307-313, 2001
(PubMed ID:
11393532
)
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GJB1 (Cx32):
(Arg22Gln)
(Val63Ile)
(Glu186Lys)
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Mutations
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Reference
| Title |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation |
| Authors |
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 |
| Reference |
Ann Neurol 51: 190-201, 2002
(PubMed ID:
11835375
)
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PMP22:
(Trp28Arg)
(Leu71Pro)
(Ser72Leu)
(Gly94fs)
MPZ (P0):
(Ser78Leu)
(Ser78Leu)
(Tyr82Cys)
(Ile89Asn+Val92Met+Ile162Met)
(Gly123Cys)
(Val136Glu)
GJB1 (Cx32):
(Arg15Trp)
(Arg22Gln)
(Glu102Gly)
(Leu108Pro)
(Asn205Ile)
(Arg215Trp)
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Mutations
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Reference
| Title |
Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease. |
| Authors |
Takashima H, Nakagawa M, Umehara F, Hirata K, Suehara M, Mayumi H, Yoshishige K, Matsuyama W, Saito M, Jonosono M, Arimura K, Osame M |
| Reference |
Acta Neurol Scand 107: 31-37, 2003
(PubMed ID:
12542510
)
|
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GJB1 (Cx32):
(Arg22Gln)
(Val63Ile)
(Glu186Lys)
(Deletion of complete coding region)
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Mutations
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Reference
| Title |
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. |
| Authors |
Dubourg O, Tardieu S, Birouk N, Gouider R, Leger JM, Maisonobe T, Brice A, Bouche P, LeGuern E |
| Reference |
Brain 124: 1958-1967, 2001
(PubMed ID:
11571214
)
|
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GJB1 (Cx32):
(Arg22Gln)
(Ala39fs)
(Leu56Phe)
(Val91Met)
(His94Asp)
(His94Gln)
(Thr130Ile)
(Arg142Gln)
(Arg164Trp)
(Arg164Gln)
(Glu186Lys)
(Gly199Arg)
(Arg215Trp)
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Mutations
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