Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

Katia Sampieri, Theodora Hadjistilianou, Francesca Mari, Caterina Speciale, Maria Antonietta Mencarelli, Francesco Cetta, Siranoush Manoukian, Bernard Peissel, Daniela Giachino, Barbara Pasini, Antonio Acquaviva, Aldo Caporossi, Renato Frezzotti, Alessandra Renieri, Mirella Bruttini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

23 Citazioni (Scopus)


Retinoblastoma (RB, OMIM#180200) is the most common intraocular tumour in infancy and early childhood. Constituent mutations in the RB1 gene predispose individuals to RB development. We performed a mutational screening of the RB1 gene in Italian patients affected by RB referred to the Medical Genetics of the University of Siena. In 35 unrelated patients, we identified germline RB1 mutations in 6 out of 9 familial cases (66%) and in 7 out of 26 with no family history of RB (27%). Using the single-strand conformational polymorphism (SSCP) technique, 11 novel mutations were detected, including 3 nonsense, 5 frameshift and 4 splice-site mutations. Only two of these mutations (1 splice site and 1 missense) were previously reported. The mutation spectrum reflects the published literature, encompassing predominately nonsense or frameshift and splicing mutations. RB1 germline mutation was detected in 37% of our cases. Gross rearrangements outside the investigated region, altered DNA methylation, or mutations in non-coding regions, may be the cause of disease in the remainder of the patients. Some cases, e.g. a case of incomplete penetrance, or variable expressivity ranging from retinoma to multiple tumours, are discussed in detail. In addition, a case of pre-conception genetic counselling resolved by rescue of banked cordonal blood of the affected deceased child is described. © The Japan Society of Human Genetics and Springer-Verlag 2006.
Lingua originaleEnglish
pagine (da-a)209-216
Numero di pagine8
RivistaJournal of Human Genetics
Stato di pubblicazionePubblicato - 2006


  • Base Sequence
  • DNA Primers
  • Exons
  • Female
  • Genes, Retinoblastoma
  • Genetic Counseling
  • Genetics
  • Genetics (clinical)
  • Humans
  • Introns
  • Italian population
  • Italy
  • Male
  • Mutation
  • Mutation screening
  • Pedigree
  • RB1 gene
  • Retinoblastoma


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