Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients

Human Heredity

Volumn 50, Issue 3, 2000, Pages 162-165

  Savas, Sevtap ^a   Gokgoz, Nalan ^a   Kayserili, Hulya ^b   Ozkinay, Ferda ^c   Yuksel Apak, Memnune ^b   Kirdar, Betul ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c EGE UNIVERSITY   (Turkey)

Author keywords

Deletions; Hybrid SMN gene; Phenotype genotype correlation; SMA

Indexed keywords

INHIBITOR OF APOPTOSIS PROTEIN; NERVE PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; EXON; GENE DELETION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; SPINAL MUSCULAR ATROPHY; TURKEY (REPUBLIC);

EID: 0033982755     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022907     Document Type: Article

References (29)

1. Pearn J: Classification of spinal muscular atrophies. Lancet 1980;i:919-922.
2. 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: Identification and characterisation of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
3. 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, de Jong PJ, Surh L, Ikeda J-E, Korneluk RG, Mackenzie A: The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-178.
4. Burglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, Egly J-M, Melki J: 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.
5. Carter TA, Bonnemann CG, Wang CH, Obici S, Parano E, Bonaldo MF, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC: A multicopy transcriptionrepair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet 1997;2:229-236.
6. Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhemsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, Dubowitz V, Zerres K, Hausmanowa-Petrusewicz I, Ott J, Gilliam TC: Genetic mapping of chronic childhood onset spinal muscular atrophy to chromosome 5q11.2-q13.3. Nature 1990;344:540-541.
7. Melki J, Sheth P. Abdelhak S, Burlet P, Bachelot M-F, Lathrop M, Frezal J, Munnich A: Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990; 336:271-273.
8. van der Steege G, Grootscholten PM, van der Vlies, Draaijers TG, Osinga J, Cobben JM, Scheffer H, Buys CHCM: PCR-based DNA lest to confirm to clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-986.
9. Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies KE: Gene deletion in spinal muscular atrophy. J Med Genet 1996;33:93-96.
10. Hahnen E, Forkert R, Marke C, Rudnik-Schoneborn S, Schonling J, Zerres K, Wirth B: Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995;10:1927-1933.
11. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE: Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4:631-634.
12. CBCD541 and SMA phenotype. Hum Mol Genet 1996;2:257-263.
13. Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Apak MY, Cassiman J-J: Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet 1996;33:469-474.
14. Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CHCM: Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995;57:805-808.
15. Hahnen E, Schonung J, Rudnik-Schoneborn S, Zerres K, Wirth B: Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease. Am J Hum Genet 1996;59:1057-1065.
16. van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GB, Brahe C, Buys CHCM: Apparent gene conversion involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 1996;59:834-838.
17. Di Donato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley RT, Florence J, Burghes AHM: Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity? Ann Neurol 1997;41:230-237.
18. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies KE: Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype. Am J Hum Genet 1997;61:40-50.
19. Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G: Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 1996;12:1971-1976.
20. Bussaglia E, Clerrmont O, Tizzano E, Lefebvre S, Burglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, Melki J: A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 1995;11:335-337.
21. Parsons DW, McAndrew PE, Monani UR, Mendel JR, Burghes AHM, Prior TW: 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 1996;11:1727-1732.
22. Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE: 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;3: 497-500.
23. Hahnen E, Scholing J, Rudnik-Schoreborn S, Raschke H, Zerres K, Wirth B: Missense mutation in exon 6 of survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet 1997;6:821-825.
24. Liu Q, Fischer U, Wang F, Dreyfuss G: The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in complex with the spliceosomal snRNP proteins. Cell 1997;90:1013-1021.
25. Fischer U, Liu Q, Dreyfuss G: The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997;90:1023-1029.
26. Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J: Correlation between the severity and the SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265-269.
27. Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AHM: The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997;6:1205-1214.
28. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
29. C gene copy number. Am J Hum Genet 1997;60:1411-1422.