A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

Human Mutation

Volumn 22, Issue 2, 2003, Pages 136-143

  Cuscó, Ivon ^a   López, Eva ^a   Soler Botija, Carolina ^a   Barceló, María Jesús ^a   Baiget, Montserrat ^a   Tizzano, Eduardo F ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Exon 3; Founder effect; Genotype phenotype; SMA; SMN; Transcription

Indexed keywords

ADENINE; GUANINE; MICROSATELLITE DNA; NUCLEIC ACID BASE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; COMPARATIVE STUDY; CONSANGUINITY; CONTROLLED STUDY; DELETION MUTANT; DISEASE CLASSIFICATION; DNA FLANKING REGION; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GEOGRAPHIC DISTRIBUTION; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MORPHOLOGICAL TRAIT; MUTATOR GENE; NEUROMUSCULAR DISEASE; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEGRADATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SURVIVAL MOTOR NEURON 1 GENE;

ADENINE; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GENOTYPE; GUANINE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; RNA-BINDING PROTEINS; SEQUENCE DELETION; SPAIN;

EID: 0043094001     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10245     Document Type: Article

References (41)

1. Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G. 1996. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 12:1971-1976.
2. Bühler D, Raker V, Lührmann R, Fisher U. 1999. Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum Mol Genet 8:2351-2357.
3. Burghes AHM. 1997. When is a deletion not a deletion? When it is converted. Am J Hum Genet 61:9-15.
4. Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. 1996a. Structure and organization of the human survival motor neurone (SMN) gene. Genomics 32: 479-482.
5. Bürglen L, Patel S, Dubowitz V, Melki J, Muntoni F. 1996b. A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. First congress of the world muscle society. Oxford: Elsevier. p S39.
6. Bürglen L, Seroz T, Miniou P, Lefebvre S, Philippe B, Munnich A, Viegas Pequignot E, Egly JM, Melki J. 1997. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werding-Hoffman disease. Am J Hum Genet 60:72-79.
7. Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtziberea JA, Colomer J, Munnich A, Baiget M, Melki J. 1995. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 11:335-337.
8. 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 61:40-50.
9. Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE. 1998. Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. Genomics 48:121-127.
10. Clermont O, Burlet P, Cruaud C, Bertrandy S, Melki J, Munnich A, Lefebvre S. 1997. Mutation analysis of the SMN gene in undeleted SMA patients. Annual meeting of the American society of human genetics. Am J Hum Genet 61:A329.
11. Cusco I, Barceló MJ, Baiget M, Tizzano E. 2002. Implementation of SMA carrier testing in genetic laboratories: Comparison of two methods for quantifying the SMN1 gene. Hum Mutat 20:452-459.
12. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
13. DiDonato CJ, Morgan K, Carpten JD, Fuerst P, Ingraham SE, Prescott G, McPherson JD, Wirth B, Zerres K, Hurko O, Wasmuth JJ, Mendell JR, Burghes AHM, Simard LR. 1994. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 55:1218-1229.
14. Dodds E, Dunckley MG, Roberts RG, Muntoni F, Shaw CE. 2001. Overexpressed human survival motor neurone isoforms, SMNAexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmatic distribution. FEBS 495:31-38.
15. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. 2002. 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 70:358-368.
16. Gambardella A, Mazzei R, Toscano, Annesi G, Pasqua A, Annesi F, Quattrone F, Oliveri RL, Valentino P, Bono F, Aguglia U, Zappia M, Vita G, Quattrone A. 1998. Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. Ann Neurol 44:836-839.
17. Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B. 1995. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 213:342-348.
18. Hahnen E, Schönling J, Rudnik-Schöneborn S, Raschke H, Zerres K, Wirth B. 1997. Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet 6:821-825.
19. Jong Y, Chang J, Lin S, Yang T, Wang J, Chang C, Lee C, Li H, Hsieh-Li H, Tsai C. 2000. Analysis of mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients. J Neurol Sci 173:147-153.
20. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal J, Cohen D, Weissenbach J, Munnich A, Melki J. 1995. Identification and characterization of a spinal muscular atrophy, determining gene. Cell 80:155-165.
21. Lorson C, Androphy E. 2000. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 9:259-265.
22. Martín Y, Valero A, del Castillo E, Pascual S, Hernandez-Chico C. 2002. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygous and characterisation of novel intragenic SMN1 mutations. Hum Genet 110:257-263.
23. McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AHM. 1997. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNt and SMNc gene copy number. Am J Hum Genet 60:1411-1422.
24. Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Le Paslier D. 1994. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 3:1474-1477.
25. Miller SA, Dykes DD, Polesky H. 1989. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
26. Munsat TM, Davies KE. 1992. Meeting report: international SMA consortium meeting. Neuromuscular Disorders 2:423-428.
27. Parsons D, McAndrew P, Monani U, Mendell J, Burghes A, Prior T 1996. An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet 5:1727-1732.
28. Parsons DW, McAndrew PE, Allison PS, Parker WD, Burghes AHM, Prior TW. 1998a. Diagnosis of spinal muscular atrophy in a SMN non-deletion patient using a quantitative PCR screen and mutation analysis. J Med Genet 35:674-676.
29. Parsons DW, McAndrew PE, Iannaccoue ST, Mendell JR, Burghes AHM, Prior TW. 1998b. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotypes by cenSMN copy number. Am J Hum Genet 63:1712-1723.
30. Ponting CP. 1997. Tudor domains in proteins that interact with RNA. Trends Biochem Sci 22:51-52.
31. Rochette C, Surh L, Ray PN, McAndrew PE, Prior TW, Burghes AHM, Vanasse M, Simard LR. 1997. Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Neurogenet 1:141-147.
32. Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, Besner-Johnston A, Lefebvre C, Kang X, Salih M, Aubry H, Tamai K, Guan X, Ioannou P, Crawford TO, deJong PJ, Surh L, Ikeda JE, Korneluk RG, MacKenzie A. 1995. The gene for neuronal apoptosis inhibitory protein in partially deleted in individuals with spinal muscular atrophy. Cell 80:167-178.
33. Skordis LA, Dunckley MG, Bürglen L, Campbell L, Talbot K, Patel S, Melki J, Davies KE, Dubowitz V, Muntoni F. 2001. Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA. Hum Genet 108:356-357.
34. Sossi V, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C. 2001. Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. Eur J Hum Genet 9:113-120.
35. Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE. 1997. 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 6:497-500.
36. Taylor JE, Thomas NH, Lewis CM, Abbs SJ, Rodrigues NR, Davies KE, Mathew CG. 1998. Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy. Eur J Hum Genet 6:467-474.
37. van der Steege G, Grootscholten PM, van der Ulics P, Draaijens TG, Osimge J, Cobben JM, Scheffer H, Buys CH. 1995. PCR based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy (letter). Lancet 345:985-986.
38. Wang CH, Papendick BD, Bruinsma P, Day JK. 1998. Identification of a novel missense mutation of the SMNt gene in two siblings with spinal muscular atrophy. Neurogenet 1:273-276.
39. Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, Wienker T, Zerres K. 1999. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 6:1340-1356.
40. Wirth B. 2000. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy. Hum Mutat 15:228-237.
41. Zerres K, Rudnik-Schoneborn. 1995. Natural history in proximal spinal muscular atrophy (SMA)-clinical analysis of 445 patients and suggestions for modification of existing classifications. Arch Neurol 52:518-523.