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Volumn 51, Issue 1, 2012, Pages 93-98

A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits

Author keywords

GJA1; MRI; Mutation; Oculodentodigital dysplasia (ODDD); Peripheral sensory nerve deficits; Spastic paraparesis

Indexed keywords

CONNEXIN 43;

EID: 84855213850     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.51.5770     Document Type: Article
Times cited : (22)

References (31)
  • 2
    • 0021962629 scopus 로고
    • Three new cases of oculodentodigital (ODD) syndrome: Development of the facial phenotype
    • Patton MA, Laurence KM. Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. J Med Genet 22: 386-389, 1985.
    • (1985) J Med Genet , vol.22 , pp. 386-389
    • Patton, M.A.1    Laurence, K.M.2
  • 4
    • 0036255381 scopus 로고    scopus 로고
    • Neurological manifestations of the oculodentodigital dysplasia syndrome
    • Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauser F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 249: 584-595, 2002.
    • (2002) J Neurol , vol.249 , pp. 584-595
    • Loddenkemper, T.1    Grote, K.2    Evers, S.3    Oelerich, M.4    Stogbauser, F.5
  • 5
    • 0037320927 scopus 로고    scopus 로고
    • Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
    • Paznekas WA, Boyadjiev SA, Shapiro RE, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72: 408-418, 2003.
    • (2003) Am J Hum Genet , vol.72 , pp. 408-418
    • Paznekas, W.A.1    Boyadjiev, S.A.2    Shapiro, R.E.3
  • 6
    • 39049116483 scopus 로고    scopus 로고
    • Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature
    • Joss SK, Ghazawy S, Tomkins S, Ahmed M, Bradbury J, Sheridan E. Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. Eur J Pediatr 167: 341-345, 2008.
    • (2008) Eur J Pediatr , vol.167 , pp. 341-345
    • Joss, S.K.1    Ghazawy, S.2    Tomkins, S.3    Ahmed, M.4    Bradbury, J.5    Sheridan, E.6
  • 7
    • 8844219651 scopus 로고    scopus 로고
    • Oculodentodigital dysplasia: Study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance
    • Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leao LL, de Aguiar MJ. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. Ophthalmic Genet 25: 227-236, 2004.
    • (2004) Ophthalmic Genet , vol.25 , pp. 227-236
    • Frasson, M.1    Calixto, N.2    Cronemberger, S.3    de Aguiar, R.A.4    Leao, L.L.5    de Aguiar, M.J.6
  • 8
    • 1642451717 scopus 로고    scopus 로고
    • Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/ type III syndactyly
    • Richardson RJ, Donnai D, Meire F, Dixon M. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/ type III syndactyly. J Med Genet 41: 60-67, 2004.
    • (2004) J Med Genet , vol.41 , pp. 60-67
    • Richardson, R.J.1    Donnai, D.2    Meire, F.3    Dixon, M.4
  • 9
    • 2442566613 scopus 로고    scopus 로고
    • Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair
    • Kjaer KW, Hansen L, Eiberg H, Leicht P, Optz JM, Tommerup N. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A 127: 152-157, 2004.
    • (2004) Am J Med Genet A , vol.127 , pp. 152-157
    • Kjaer, K.W.1    Hansen, L.2    Eiberg, H.3    Leicht, P.4    Optz, J.M.5    Tommerup, N.6
  • 11
    • 11844304106 scopus 로고    scopus 로고
    • A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
    • van Steensel MA, Spruijt L, van der Burgt I, et al. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A 132: 171-174, 2005.
    • (2005) Am J Med Genet A , vol.132 , pp. 171-174
    • van Steensel, M.A.1    Spruijt, L.2    van der Burgt, I.3
  • 13
    • 66749106316 scopus 로고    scopus 로고
    • GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
    • Paznekas WA, Karczeski B, Vermeer S, et al. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Human Mutation 30(Suppl): 724-733, 2009.
    • (2009) Human Mutation , vol.30 , Issue.SUPPL. , pp. 724-733
    • Paznekas, W.A.1    Karczeski, B.2    Vermeer, S.3
  • 14
    • 0029400840 scopus 로고
    • Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene
    • Ikeda M, Abe K, Aoki M, et al. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. Neurology 45: 2038-2042, 1995.
    • (1995) Neurology , vol.45 , pp. 2038-2042
    • Ikeda, M.1    Abe, K.2    Aoki, M.3
  • 15
    • 8044251536 scopus 로고    scopus 로고
    • The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients
    • Ikeda M, Sharma V, Sumi SM, et al. The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients. Ann Neurol 40: 912-917, 1996.
    • (1996) Ann Neurol , vol.40 , pp. 912-917
    • Ikeda, M.1    Sharma, V.2    Sumi, S.M.3
  • 16
    • 1642451717 scopus 로고    scopus 로고
    • Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/ type III syndactyly
    • Richardson R, Donnai D, Meire F, Dixon MJ. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/ type III syndactyly. J Med Genet 41: 60-67, 2004.
    • (2004) J Med Genet , vol.41 , pp. 60-67
    • Richardson, R.1    Donnai, D.2    Meire, F.3    Dixon, M.J.4
  • 17
    • 0025867239 scopus 로고
    • Evidence that the gap junction protein connexin-43 is the ATP-induced pore of mouse macrophages
    • Beyer EC, Steinberg TH. Evidence that the gap junction protein connexin-43 is the ATP-induced pore of mouse macrophages. J Biol Chem 266: 7971-7974, 1991.
    • (1991) J Biol Chem , vol.266 , pp. 7971-7974
    • Beyer, E.C.1    Steinberg, T.H.2
  • 18
    • 0036083484 scopus 로고    scopus 로고
    • Cx40 and Cx43 expression ratio influences heteromeric/heterotypic gap junction channel properties
    • Cottrell GT, Wu Y, Burt JM. Cx40 and Cx43 expression ratio influences heteromeric/heterotypic gap junction channel properties. Am J Physiol Cell Physiol 282: C1469-C1482, 2002.
    • (2002) Am J Physiol Cell Physiol , vol.282
    • Cottrell, G.T.1    Wu, Y.2    Burt, J.M.3
  • 19
    • 20444381286 scopus 로고    scopus 로고
    • Functional consequences of heterogeneous gap junction channel formation and its influence in health and disease
    • Cottrell GT, Burt JM. Functional consequences of heterogeneous gap junction channel formation and its influence in health and disease. Biochim Biophys Acta 1711: 126-141, 2005.
    • (2005) Biochim Biophys Acta , vol.1711 , pp. 126-141
    • Cottrell, G.T.1    Burt, J.M.2
  • 20
    • 0027299503 scopus 로고
    • Endogenous and exogenous modulation of gap junctional intercellular communication: Toxicological and pharmacological implications
    • Trosko JE, Madhukar BV, Chang CC. Endogenous and exogenous modulation of gap junctional intercellular communication: toxicological and pharmacological implications. Life Sci 53: 1-19, 1993.
    • (1993) Life Sci , vol.53 , pp. 1-19
    • Trosko, J.E.1    Madhukar, B.V.2    Chang, C.C.3
  • 21
    • 0029071158 scopus 로고
    • Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family
    • Norton KK, Carey JC, Gutmann DH. Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family. Am J Med Genet 57: 458-461, 1995.
    • (1995) Am J Med Genet , vol.57 , pp. 458-461
    • Norton, K.K.1    Carey, J.C.2    Gutmann, D.H.3
  • 22
    • 0019485993 scopus 로고
    • Neurological manifestations of oculodentodigital dysplasia: A case report
    • (in French)
    • Audry D, Dumas R, Nivelon A, Audry F. Neurological manifestations of oculodentodigital dysplasia: a case report. Rev Otoneuroophthalmol 53: 209-214, 1981 (in French).
    • (1981) Rev Otoneuroophthalmol , vol.53 , pp. 209-214
    • Audry, D.1    Dumas, R.2    Nivelon, A.3    Audry, F.4
  • 23
  • 24
    • 0033566352 scopus 로고    scopus 로고
    • Multiple connexin expression in peripheral nerve, Schwann cells, and Schwannoma cells
    • Mambetisaeva ET, Gire V, Evans WH. Multiple connexin expression in peripheral nerve, Schwann cells, and Schwannoma cells. J Neurosci Res 57: 166-175, 1999.
    • (1999) J Neurosci Res , vol.57 , pp. 166-175
    • Mambetisaeva, E.T.1    Gire, V.2    Evans, W.H.3
  • 25
    • 0345600908 scopus 로고    scopus 로고
    • The CNS phenotype of X-linked Charcot-Marie-Tooth disease: More than a peripheral problem
    • Taylor RA, Simon EM, Marks HG, Scherer SS. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 61: 1475-1478, 2003.
    • (2003) Neurology , vol.61 , pp. 1475-1478
    • Taylor, R.A.1    Simon, E.M.2    Marks, H.G.3    Scherer, S.S.4
  • 26
    • 41249084806 scopus 로고    scopus 로고
    • Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease
    • Laird DW. Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. J Biol Chem 283: 2997-3001, 2008.
    • (2008) J Biol Chem , vol.283 , pp. 2997-3001
    • Laird, D.W.1
  • 27
    • 51349097431 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth type X: Unusual phenotype of a novel CX32 mutation
    • Mazzeo A, Di Leo R, Toscano A, et al. Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation. Eur J Neurol 15: 1140-1142, 2008.
    • (2008) Eur J Neurol , vol.15 , pp. 1140-1142
    • Mazzeo, A.1    Di Leo, R.2    Toscano, A.3
  • 28
    • 22944436459 scopus 로고    scopus 로고
    • Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease
    • Kassubek J, Bretschneider V, Sperfeld AD. Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease. J Clin Neurosci 12: 588-589, 2005.
    • (2005) J Clin Neurosci , vol.12 , pp. 588-589
    • Kassubek, J.1    Bretschneider, V.2    Sperfeld, A.D.3
  • 29
    • 15744381000 scopus 로고    scopus 로고
    • Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43
    • Roscoe W, Veitch GI, Gong XQ, et al. Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43. J Biol Chem 280: 11458-11466, 2005.
    • (2005) J Biol Chem , vol.280 , pp. 11458-11466
    • Roscoe, W.1    Veitch, G.I.2    Gong, X.Q.3
  • 30
    • 69849103802 scopus 로고    scopus 로고
    • Connexin channels and phospholipids: Association and modulation
    • Locke D, Harris AL. Connexin channels and phospholipids: association and modulation. BMC Biol 7: 52-75, 2009.
    • (2009) BMC Biol , vol.7 , pp. 52-75
    • Locke, D.1    Harris, A.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.