Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

European Journal of Human Genetics

Volumn 19, Issue 2, 2011, Pages 157-163

  Van Den Ouweland, Ans M W ^a   Elfferich, Peter ^a   Zonnenberg, Bernard A ^b   Arts, Willem F ^a   Kleefstra, Tjitske ^c   Nellist, Mark D ^a   Millan, Jose M ^d   Withagen Hermans, Caroline ^a   Maat Kievit, Anneke J A ^a   Halley, Dicky J J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

deletions; MLPA; promoter; TSC1

Indexed keywords

MESSENGER RNA; PROTEIN; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE LOSS; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; SEQUENCE ANALYSIS; TUBEROUS SCLEROSIS;

DNA MUTATIONAL ANALYSIS; HUMANS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHENOTYPE; POLYMERASE CHAIN REACTION; PROMOTER REGIONS, GENETIC; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 78651412021     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.156     Document Type: Article

References (26)

1. Crino PB, Nathanson KL, Henske EP: The tuberous sclerosis complex. N Engl J Med 2006; 355: 1345-1356.
2. Au KS, Williams AT, Roach ES et al: Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 2007; 9: 88-100.
3. Sancak O, Nellist M, Goedbloed M et al: Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet 2005; 13: 731-741.
4. Dabora SL, Jozwiak S, Franz DN et al: Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68: 64-80.
5. Jones AC, Sampson JR, Hoogendoorn B, Cohen D, Cheadle JP: Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Hum Genet 2000; 106: 663-668.
6. European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-1315.
7. Van Slegtenhorst M, de Hoogt R, Hermans C et al: Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805-808. (Pubitemid 27366729)
8. Henske EP, Scheithauer BW, Short MP et al: Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996; 59: 400-406.
9. Ali M, Girimaji SC, Kumar A: Identification of a core promoter and a novel isoform of the human TSC1 gene transcript and structural comparison with mouse homolog. Gene 2003; 320: 145-154.
10. Mayer K, Ballhausen W, Rott HD: Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. Hum Mutat 1999; 14: 401-411.
11. van Bakel I, Sepp T, Ward S, Yates JR, Green AJ: Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). Hum Mol Genet 1997; 6: 1409-1414.
12. Rendtorff ND, Bjerregaard B, Frodin M et al: Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Hum Mutat 2005; 26: 374-383.
13. Langkau N, Martin N, Brandt R et al: TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. Eur J Pediatr 2002; 161: 393-402.
14. Roberts PS, Jozwiak S, Kwiatkowski DJ, Dabora SL: Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. J Biochem Biophys Methods 2001; 47: 33-37.
15. Brook-Carter PT, Peral B, Ward CJ et al: Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome. Nat Genet 1994; 8: 328-332.
16. Verhoef S, Vrtel R, van Essen T et al: Somatic mosaicism and clinical variation in tuberous sclerosis complex. Lancet 1995; 345: 202.
17. Dabora SL, Nieto AA, Franz D, Jozwiak S, Van Den Ouweland A, Kwiatkowski DJ: Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination. J Med Genet 2000; 37: 877-883.
18. Kozlowski P, Roberts P, Dabora S et al: Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 2007; 121: 389-400.
19. Longa L, Saluto A, Brusco A et al: TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene. Hum Genet 2001; 108: 156-166.
20. Nellist M, Sancak O, Goedbloed MA et al: Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. Genet Test 2005; 9: 226-230.
21. Bruge F, Littarru GP, Silvestrini L, Mancuso T, Tiano L: A novel Real Time PCR strategy to detect SOD3 SNP using LNA probes. Mutat Res 2009; 669: 80-84.
22. Berggren P, Kumar R, Sakano S et al: Detecting homozygous deletions in the CDKN2A(p16(INK4a))/ARF(p14(ARF)) gene in urinary bladder cancer using real-time quantitative PCR. Clin Cancer Res 2003; 9: 235-242.
23. Coevoets R, Arican S, Hoogeveen-Westerveld M et al: A reliable cell-based assay for testing unclassified TSC2 gene variants. Eur J Hum Genet 2009; 17: 301-310.
24. Nellist M, Sancak O, Goedbloed M et al: Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. BMC Med Genet 2008; 9: 10.
25. Nellist M, van den Heuvel D, Schluep D et al: Missense mutations to the TSC1 gene cause tuberous sclerosis complex. Eur J Hum Genet 2009; 17: 319-328.
26. Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D et al: Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 2009; 10: 88.