Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype

European Journal of Human Genetics

Volumn 22, Issue 11, 2014, Pages 1298-1304

  Colombo, Elisa Adele ^a   Fontana, Laura ^a   Roversi, Gaia ^b   Negri, Gloria ^a   Castiglia, Daniele ^c   Paradisi, Mauro ^c   Zambruno, Giovanna ^c   Larizza, Lidia ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

alternative splicing; exonic splicing enhancer; hypomorphic mutation; mild phenotype; RECQL4; Rothmund Thomson

Indexed keywords

ISOPROTEIN; SERINE ARGININE RICH PROTEIN; COMPLEMENTARY DNA; RECQ HELICASE; RECQL4 PROTEIN, HUMAN; STOP CODON;

ARTICLE; CASE REPORT; CHILD; CODON; CONTROLLED STUDY; DAUGHTER; DESQUAMATION; DISEASE SEVERITY; ERYTHEMA; EXON; EXON SKIPPING; FATHER; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPIGMENTATION; HYPOPIGMENTATION; MALE; NUCLEOTIDE SEQUENCE; PERIPHERAL LYMPHOCYTE; PHENOTYPE; POIKILODERMA; PRESCHOOL CHILD; RECQL4 GENE; RNA ANALYSIS; RNA SPLICING; ROTHMUND THOMSON SYNDROME; SCANTY HAIR; SCHOOL CHILD; SIBLING; SKIN ATROPHY; TELANGIECTASIA; UPREGULATION; ALLELE; AMINO ACID SEQUENCE; CELL LINE; DNA SEQUENCE; GENETICS; GENOTYPE; INFANT; ISOLATION AND PURIFICATION; METABOLISM; MOLECULAR GENETICS; MUTATION; PEDIGREE; ROTHMUND-THOMSON SYNDROME; SKIN; STOP CODON;

ALLELES; AMINO ACID SEQUENCE; CELL LINE; CHILD; CODON, NONSENSE; DNA, COMPLEMENTARY; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME; SEQUENCE ANALYSIS, DNA; SIBLINGS; SKIN;

EID: 84908499121     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.18     Document Type: Article

References (21)

1. Kitao S, Shimamoto A, Goto M et al: Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999; 22: 82-84.
2. Wang LL, Gannavarapu A, Kozinetz CA et al: Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 2003; 95: 669-674.
3. Larizza L, Roversi G, Volpi L: Rothmund-Thomson syndrome. Orphanet J Rare Dis 2010; 5: 2.
4. De Somer L, Wouters C, Morren MA et al: Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. Orphanet J Rare Dis 2010; 5: 37.
5. Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F: Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review. Am J Med Genet A 2010; 152A: 1575-1579.
6. Fradin M, Merklen-Djafri C, Perrigouard C et al: Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder. Dermatology 2013; 226: 353-357.
7. Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL: Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol 2008; 191: W62-W66.
8. Croteau DL, Rossi ML, Ross J et al: RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity. Biochim Biophys Acta 2012; 1822: 1727-1734.
9. Beghini A, Castorina P, Roversi G, Modiano P, Larizza L: RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. Am J Med Genet A 2003; 120A: 395-399.
10. Livak KJ, Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 2001; 25: 402-408.
11. Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ, Krainer AR: An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 2006; 15: 2490-2508.
12. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR: ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acid Res 2003; 31: 3568-3571.
13. Sznajer Y, Siitonen HA, Roversi G et al: Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. Eur J Pediatr 2008; 167: 175-181.
14. Carlson AM, Thomas KB, Kirmani S, Lindor NM: Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. Am J Med Genet A 2012; 158A: 2250-2253.
15. Shah KN: The diagnostic and clinical significance of cafe-au-lait macules. Pediatr Clin North Am 2010; 57: 1131-1153.
16. Wang LL, Levy ML, Lewis RA et al: Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 2001; 102: 11-17.
17. Cabral RE, Queille S, Bodemer C et al: Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents. Mutat Res 2008; 643: 41-47.
18. Siitonen HA, Sotkasiira J, Biervliet M et al: The mutation spectrum in RECQL4 diseases. Eur J Hum Genet 2009; 17: 151-158.
19. Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A: Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics 1999; 61: 268-276.
20. Balraj P, Concannon P, Jamal R et al: An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. Mutat Res 2002; 508: 99-105.
21. Larizza L, Roversi G, Verloes A: Clinical utility gene card for: Rothmund-Thomson syndrome. Eur J Hum Genet 2013; 21: 792.