Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy

Gene

Volumn 518, Issue 2, 2013, Pages 325-329

  He, Jin ^a   Zhang, Qi Jie ^a   Lin, Qi Fang ^a   Chen, Ya Fang ^a   Lin, Xiao Zhen ^a   Lin, Min Ting ^a   Murong, Shen Xing ^a   Wang, Ning ^a   Chen, Wan Jin ^a  

^a FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

Genotype phenotype analysis; Quantification; Spinal muscular atrophy; Subtle mutation; Survival motor neuron gene

Indexed keywords

GTF2H2 PROTEIN; H4F5 PROTEIN; NEURONAL APOPTOSIS INHIBITORY PROTEIN; PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHINESE; DISEASE SEVERITY; DNA ISOLATION; EXON; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; PHENOTYPE; SEQUENCE DELETION; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84875373762     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.109     Document Type: Article

References (27)

1. Alías L., et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum. Genet. 2009, 125:29-39.
2. Amara A., et al. Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. Eur. J. Paediatr. Neurol. 2012, 16:167-174.
3. Arkblad E.L., et al. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul. Disord. 2006, 16:830-838.
4. Arkblad E., Tulinius M., Kroksmark A.K., Henricsson M., Darin N. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr. 2009, 98:865-872.
5. Burghes A.H. When is a deletion not a deletion? When it is converted?. Am. J. Hum. Genet. 1997, 61:9-15.
6. Burghes A.H., Beattie C.E. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?. Nat. Rev. Neurosci. 2009, 10:597-609.
7. Bürglen L., et al. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-Scale deletions associated with Werdnig-Hoffmann Disease. Am. J. Hum. Genet. 1997, 60:72-79.
8. Chen W.J., Wu Z.Y., Wang N., Lin M.T., Murong S.X. Correlation between SMN2 copies and the phenotype of spinal muscular atrophy. Zhonghua Shen Jing Ke Zha Zhi 2005, 38:673-676.
9. Chen W.J., et al. 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. 2007, 64:225-231.
10. Clermont O., et al. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Hum. Mutat. 2004, 24:417-427.
11. Feldkötter M., Schwarzer V., Wirth R., Wienker T.F., Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am. J. Hum. Genet. 2002, 70:358-368.
12. Iannaccone S.T. Spinal muscular atrophy. Semin. Neurol. 1998, 18:19-26.
13. Kolb S.J., Kissel J.T. Spinal muscular atrophy: a timely review. Arch. Neurol. 2011, 68:979-984.
14. Lefebvre S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165.
15. Ma H., et al. Study of NAIP gene in spinal muscular atrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 1999, 16:97-98.
16. Meldrum C., Scott C., Swoboda K.J. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents perspective. J. Child Neurol. 2007, 22:1019-1026.
17. Munsat T.L., Davies K.E. International SMA consortium meeting. Neuromuscul. Disord. 1992, 2:423-428. (26-28 June 1992, Bonn, Germany).
18. Prior T.W., Nagan N., Sugarman E.A., Batish S.D., Braastad C. Technical standards and guidelines for spinal muscular atrophy testing. Genet. Med. 2011, 13:686-694.
19. Roy N., et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995, 80:167-178.
20. Scharf J.M., et al. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat. Genet. 1998, 20:83-86.
21. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002, 30:e57.
22. Sheng-Yuan Z., et al. Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population. Eur. J. Hum. Genet. 2010, 18:978-984.
23. Stuppia L., Antonucci I., Palka G., Gatta V. Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int. J. Mol. Sci. 2012, 13:3245-3276.
24. Talbot K., et al. Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?. Hum. Mol. Genet. 1997, 6:497-500.
25. van der Steege G., et al. PCR-based DNA test to confirm the clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995, 345:985-986.
26. Wang J., Dreyfuss G. Characterization of functional domains of the SMN protein in vivo. J. Biol. Chem. 2001, 276:45387-45393.
27. Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum. Mutat. 2000, 15:228-237.