메뉴 건너뛰기




Volumn 10, Issue 1, 2009, Pages 29-34

Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy

Author keywords

Mutation; Neuronal apoptosis inhibitory protein (NAIP) gene; Spinal muscular atrophy (SMA); Survival motor neuron (SMN) gene

Indexed keywords

NEURONAL APOPTOSIS INHIBITORY PROTEIN; SURVIVAL MOTOR NEURON 1 PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; UNCLASSIFIED DRUG;

EID: 58549105748     PISSN: 16731581     EISSN: 18621783     Source Type: Journal    
DOI: 10.1631/jzus.B0820125     Document Type: Article
Times cited : (13)

References (33)
  • 3
    • 0030776040 scopus 로고    scopus 로고
    • Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
    • [doi:10.1093/hmg/6.11.1961]
    • Battaglia, G., Princivalle, A., Forti, F., Lizier, C., Zeviani, M., 1997. Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum. Mol. Genet., 6 (11):1961-1971. [doi:10.1093/hmg/6.11.1961]
    • (1997) Hum. Mol. Genet. , vol.6 , Issue.11 , pp. 1961-1971
    • Battaglia, G.1    Princivalle, A.2    Forti, F.3    Lizier, C.4    Zeviani, M.5
  • 4
    • 39049154925 scopus 로고    scopus 로고
    • Targeting splicing in spinal muscular atrophy
    • [doi:10.1002/ana.21305]
    • Burnett, B.G., Sumner, C.J., 2008. Targeting splicing in spinal muscular atrophy. Ann. Neurol., 63 (1):3-6. [doi:10.1002/ana.21305]
    • (2008) Ann. Neurol. , vol.63 , Issue.1 , pp. 3-6
    • Burnett, B.G.1    Sumner, C.J.2
  • 5
    • 0030818315 scopus 로고    scopus 로고
    • Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
    • [doi:10.1086/513886]
    • Campbell, L., Potter, A., Ignatius, J., Dubowitz, V., Davies, K., 1997. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am. J. Hum. Genet., 61 (1):40-50. [doi:10.1086/513886]
    • (1997) Am. J. Hum. Genet. , vol.61 , Issue.1 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3    Dubowitz, V.4    Davies, K.5
  • 6
    • 4644336081 scopus 로고    scopus 로고
    • Carrier incidence for spinal muscular atrophy in southern Chinese
    • [doi:10.1007/s00415-004-0487-z]
    • Chan, V., Yip, B., Yam, I., Au, P., Lin, C.K., Wong, V., Chan, T.K., 2004. Carrier incidence for spinal muscular atrophy in southern Chinese. J. Neurol., 251 (9):1089-1093. [doi:10.1007/s00415-004-0487-z]
    • (2004) J. Neurol. , vol.251 , Issue.9 , pp. 1089-1093
    • Chan, V.1    Yip, B.2    Yam, I.3    Au, P.4    Lin, C.K.5    Wong, V.6    Chan, T.K.7
  • 8
    • 0031419876 scopus 로고    scopus 로고
    • Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents
    • [doi:10.1007/s004390050555]
    • Chang, J.G., Jong, Y.J., Lin, S.P., Soong, B.W., Tsai, C.H., Yang, T.Y., Chang, C.P., Wang, W.S., 1997. Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents. Hum. Genet., 100 (5-6):577-581. [doi:10.1007/s004390050555]
    • (1997) Hum. Genet. , vol.100 , Issue.5-6 , pp. 577-581
    • Chang, J.G.1    Jong, Y.J.2    Lin, S.P.3    Soong, B.W.4    Tsai, C.H.5    Yang, T.Y.6    Chang, C.P.7    Wang, W.S.8
  • 9
    • 0033609804 scopus 로고    scopus 로고
    • Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy
    • [doi:10.1002/ (SICI)1096-8628(19990827)85:5<463::AID-AJMG6>3.0.CO;2-V]
    • Chen, K.L., Wang, Y.L., Rennert, H., Joshi, I., Mills, J.K., Leonard, D.G., Wilson, R.B., 1999. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy. Am. J. Med. Genet., 85 (5):463-469. [doi:10.1002/ (SICI)1096-8628(19990827)85:5<463::AID-AJMG6>3.0.CO;2-V]
    • (1999) Am. J. Med. Genet. , vol.85 , Issue.5 , pp. 463-469
    • Chen, K.L.1    Wang, Y.L.2    Rennert, H.3    Joshi, I.4    Mills, J.K.5    Leonard, D.G.6    Wilson, R.B.7
  • 10
    • 33846987560 scopus 로고    scopus 로고
    • Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis
    • [doi:10.1001/archneur.64.2.225]
    • Chen, W.J., Wu, Z.Y., Lin, M.T., Su, J.F., Lin, Y., Murong, S.X., Wang, N., 2007. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis. Arch. Neurol., 64 (2):225-321. [doi:10.1001/archneur.64.2.225]
    • (2007) Arch. Neurol. , vol.64 , Issue.2 , pp. 225-321
    • Chen, W.J.1    Wu, Z.Y.2    Lin, M.T.3    Su, J.F.4    Lin, Y.5    Murong, S.X.6    Wang, N.7
  • 11
    • 0037731611 scopus 로고    scopus 로고
    • Prevalence of neuromuscular diseases in Chinese children: A study in southern China
    • [doi:10.1177/08830738030180030201]
    • Chung, B., Wong, V., Ip, P., 2003. Prevalence of neuromuscular diseases in Chinese children: A study in southern China. J. Child Neurol., 18 (3):217-219. [doi:10.1177/08830738030180030201]
    • (2003) J. Child Neurol. , vol.18 , Issue.3 , pp. 217-219
    • Chung, B.1    Wong, V.2    Ip, P.3
  • 12
    • 36349023761 scopus 로고    scopus 로고
    • Clinical trials in spinal muscular atrophy
    • Darras, B.T., Kang, P.B., 2007. Clinical trials in spinal muscular atrophy. Curr. Opin. Pediatr., 19 (6):675-679.
    • (2007) Curr. Opin. Pediatr. , vol.19 , Issue.6 , pp. 675-679
    • Darras, B.T.1    Kang, P.B.2
  • 13
    • 33748430053 scopus 로고    scopus 로고
    • Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients
    • Dastur, R.S., Gaitonde, P.S., Khadilkar, S.V., Udani, V.P., Nadkarni, J.J., 2006. Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients. Neurol. India, 54 (3):255-259.
    • (2006) Neurol. India , vol.54 , Issue.3 , pp. 255-259
    • Dastur, R.S.1    Gaitonde, P.S.2    Khadilkar, S.V.3    Udani, V.P.4    Nadkarni, J.J.5
  • 14
    • 0036591665 scopus 로고    scopus 로고
    • The molecular bases of spinal muscular atrophy
    • [doi:10.1016/S0959-437X(02)00301-5]
    • Frugier, T., Nicole, S., Cifuentes-Diaz, C, Melki, J., 2002. The molecular bases of spinal muscular atrophy. Curr. Opin. Genet. Dev., 12 (3):294-298. [doi:10.1016/S0959-437X(02)00301-5]
    • (2002) Curr. Opin. Genet. Dev. , vol.12 , Issue.3 , pp. 294-298
    • Frugier, T.1    Nicole, S.2    Cifuentes-Diaz, C.3    Melki, J.4
  • 15
    • 48049093726 scopus 로고    scopus 로고
    • Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy
    • [doi:10.1016/j.fertnstert.2007.07.1305]
    • Girardet, A., Fernandez, C., Claustres, M., 2008. Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy. Fertil. Steril., 90 (2):443.e7-443.e12. [doi:10.1016/ j.fertnstert.2007.07.1305]
    • (2008) Fertil. Steril. , vol.90 , Issue.2
    • Girardet, A.1    Fernandez, C.2    Claustres, M.3
  • 16
    • 0034641848 scopus 로고    scopus 로고
    • The neuronal apoptosis inhibitory protein suppresses neuronal differentiation and apoptosis in PC12 cells
    • [doi:10.1093/hmg/9.17.2479]
    • Gotz, R., Karch, C., Digby, M.R., Troppmair, J., Rapp, U.R., Sendtner, M., 2000. The neuronal apoptosis inhibitory protein suppresses neuronal differentiation and apoptosis in PC12 cells. Hum. Mol. Genet., 9 (17):2479-2489. [doi:10.1093/hmg/9.17.2479]
    • (2000) Hum. Mol. Genet. , vol.9 , Issue.17 , pp. 2479-2489
    • Gotz, R.1    Karch, C.2    Digby, M.R.3    Troppmair, J.4    Rapp, U.R.5    Sendtner, M.6
  • 17
    • 2342534475 scopus 로고    scopus 로고
    • A novel mutation of keratin 9 in a large Chinese family with epidermolysis palmoplantar keratoderma
    • [doi:10.1111/j.0007-0963.2004.05865.x]
    • He, X.H., Zhang, X.N., Mao, W., Chen, H.P., Xu, L.R., Chen, H., He, X.L., Le, Y.P., 2004. A novel mutation of keratin 9 in a large Chinese family with epidermolysis palmoplantar keratoderma. Br. J. Dermatol., 150 (4):647-651. [doi:10.1111/j.0007-0963.2004.05865.x]
    • (2004) Br. J. Dermatol. , vol.150 , Issue.4 , pp. 647-651
    • He, X.H.1    Zhang, X.N.2    Mao, W.3    Chen, H.P.4    Xu, L.R.5    Chen, H.6    He, X.L.7    Le, Y.P.8
  • 19
    • 34247249951 scopus 로고    scopus 로고
    • Copy number analysis of survival motor neuron genes by multiplex ligationdependent probe amplification
    • [doi:10.1097/GIM.0b013e31803d35bc]
    • Huang, C.H., Chang, Y.Y., Chen, C.H., Kuo, Y.S., Hwu, W.L., Gerdes, T., Ko, T.M., 2007. Copy number analysis of survival motor neuron genes by multiplex ligationdependent probe amplification. Genet. Med., 9 (4):241-248. [doi:10.1097/GIM.0b013e31803d35bc]
    • (2007) Genet. Med. , vol.9 , Issue.4 , pp. 241-248
    • Huang, C.H.1    Chang, Y.Y.2    Chen, C.H.3    Kuo, Y.S.4    Hwu, W.L.5    Gerdes, T.6    Ko, T.M.7
  • 21
    • 0346502172 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Molecular genetics and diagnosis
    • [doi:10.1586/14737159.4.1.15]
    • Ogino, S., Wilson, R.B., 2004. Spinal muscular atrophy: Molecular genetics and diagnosis. Exp. Rev. Mol. Diag., 4 (1):15-29. [doi:10.1586/ 14737159.4.1.15]
    • (2004) Exp. Rev. Mol. Diag. , vol.4 , Issue.1 , pp. 15-29
    • Ogino, S.1    Wilson, R.B.2
  • 22
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
    • [doi:10.1016/0092-8674(95)90461-1]
    • Roy, N., Mahadevan, M.S., McLean, M., Shutler, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnston, A., Lefebvre, C., Kang, X., et al., 1995. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell, 80 (1):167-178. [doi:10.1016/0092-8674(95)90461-1]
    • (1995) Cell , vol.80 , Issue.1 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3    Shutler, G.4    Yaraghi, Z.5    Farahani, R.6    Baird, S.7    Besner-Johnston, A.8    Lefebvre, C.9    Kang, X.10
  • 24
    • 21044456460 scopus 로고    scopus 로고
    • Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrierscreening test
    • [doi:10.1002/humu.20160]
    • Su, Y.N., Hung, C.C., Li, H., Lee, C.N., Cheng, W.F., Tsao, P.N., Chang, M.C., Yu, C.L., Hsieh, W.S., Lin, W.L., et al., 2005. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrierscreening test. Hum. Mutat., 25 (5):460-467. [doi:10.1002/humu.20160]
    • (2005) Hum. Mutat. , vol.25 , Issue.5 , pp. 460-467
    • Su, Y.N.1    Hung, C.C.2    Li, H.3    Lee, C.N.4    Cheng, W.F.5    Tsao, P.N.6    Chang, M.C.7    Yu, C.L.8    Hsieh, W.S.9    Lin, W.L.10
  • 25
    • 0030943861 scopus 로고    scopus 로고
    • Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype
    • [doi:10.1016/S0960-8966(97)00450-1]
    • Talbot, K., Rodrigues, N.R., Ignatius, J., Muntoni, F., Davies, K.E., 1997. Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype. Neuromuscul. Disord., 7 (3):198-201. [doi:10.1016/S0960-8966(97)00450-1]
    • (1997) Neuromuscul. Disord. , vol.7 , Issue.3 , pp. 198-201
    • Talbot, K.1    Rodrigues, N.R.2    Ignatius, J.3    Muntoni, F.4    Davies, K.E.5
  • 26
    • 1642450670 scopus 로고    scopus 로고
    • Survival of motor neuron gene downregulation by RNAi: Towards a cell culture model of spinal muscular atrophy
    • [doi:10.1016/j.molbrainres.2003.10.015]
    • Trülzsch, B., Davies, K., Wood, M., 2004. Survival of motor neuron gene downregulation by RNAi: Towards a cell culture model of spinal muscular atrophy. Mol. Brain Res., 120 (2):145-150. [doi:10.1016/ j.molbrainres.2003.10.015]
    • (2004) Mol. Brain Res. , vol.120 , Issue.2 , pp. 145-150
    • Trülzsch, B.1    Davies, K.2    Wood, M.3
  • 27
    • 0035885785 scopus 로고    scopus 로고
    • Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families
    • [doi:10.1016/S0022-510X(01)00574-3]
    • Tsai, C.H., Jong, Y.J., Hu, C.J., Chen, C.M., Shih, M.C., Chang, C.P., Chang, J.G., 2001. Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families. J. Neurol. Sci., 190 (1-2):35-40. [doi:10.1016/S0022-510X(01)00574-3]
    • (2001) J. Neurol. Sci. , vol.190 , Issue.1-2 , pp. 35-40
    • Tsai, C.H.1    Jong, Y.J.2    Hu, C.J.3    Chen, C.M.4    Shih, M.C.5    Chang, C.P.6    Chang, J.G.7
  • 28
    • 0028922174 scopus 로고
    • PCR based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    • [doi:10.1016/S0140-6736(95)90732-7]
    • van der Steege, G., Grootscholten, P.M., van der Vlies, P., Draaijers, T.G., Osinga, J., Cobben, J.M., Scheffer, H., Buys, C.H., 1995. PCR based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet, 345 (8955):985-986. [doi:10.1016/ S0140-6736(95)90732-7]
    • (1995) Lancet , vol.345 , Issue.8955 , pp. 985-986
    • van der Steege, G.1    Grootscholten, P.M.2    van der Vlies, P.3    Draaijers, T.G.4    Osinga, J.5    Cobben, J.M.6    Scheffer, H.7    Buys, C.H.8
  • 29
    • 33846411068 scopus 로고    scopus 로고
    • Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients
    • [doi:10.1111/j.1442-200X.2007.02302.x]
    • Watihayati, M.S., Zabidi-Hussin, A.M., Tang, T.H., Matsuo, M., Nishio, H., Zilfalil, B.A., 2007. Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. Pediatr. Int., 49 (1):11-14. [doi:10.1111/j.1442-200X.2007.02302.x]
    • (2007) Pediatr. Int. , vol.49 , Issue.1 , pp. 11-14
    • Watihayati, M.S.1    Zabidi-Hussin, A.M.2    Tang, T.H.3    Matsuo, M.4    Nishio, H.5    Zilfalil, B.A.6
  • 30
    • 0034007548 scopus 로고    scopus 로고
    • An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    • [doi:10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.3.CO;2-0]
    • Wirth, B., 2000. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum. Mutat., 15 (3):228-237. [doi:10.1002/ (SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.3.CO;2-0]
    • (2000) Hum. Mutat. , vol.15 , Issue.3 , pp. 228-237
    • Wirth, B.1
  • 31
    • 0035005936 scopus 로고    scopus 로고
    • Molecular genetic study of a childhood form of spinal muscular atrophy
    • [doi:10.1177/088307380101600412]
    • Wong, V., Chan, V., 2001. Molecular genetic study of a childhood form of spinal muscular atrophy. J. Child Neurol., 16 (4):291-294. [doi:10.1177/ 088307380101600412]
    • (2001) J. Child Neurol. , vol.16 , Issue.4 , pp. 291-294
    • Wong, V.1    Chan, V.2
  • 32
    • 4644275624 scopus 로고    scopus 로고
    • Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene
    • [doi:10.1159/000080140]
    • Yamashita, M., Nishio, H., Harada, Y., Matsuo, M., Yamamoto, T., 2004. Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene. Eur. Neurol., 52 (2):101-106. [doi:10.1159/ 000080140]
    • (2004) Eur. Neurol. , vol.52 , Issue.2 , pp. 101-106
    • Yamashita, M.1    Nishio, H.2    Harada, Y.3    Matsuo, M.4    Yamamoto, T.5
  • 33
    • 58549112753 scopus 로고    scopus 로고
    • Gene diagnosis of spinal muscular atrophy in Children
    • (in Chinese)
    • Yu, Z.S., Zhou, B.L., Shui, Q.X., Shang, S.Q., 2001. Gene diagnosis of spinal muscular atrophy in Children. J. Zhejiang Univ. (Med. Sci.), 30 (4):158-160 (in Chinese).
    • (2001) J. Zhejiang Univ. (Med. Sci.) , vol.30 , Issue.4 , pp. 158-160
    • Yu, Z.S.1    Zhou, B.L.2    Shui, Q.X.3    Shang, S.Q.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.