@article {10845,
	title = {Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.},
	journal = {Int J Mol Sci},
	volume = {19},
	year = {2018},
	month = {2018 Apr 06},
	abstract = {<p>Biallelic mutations in  gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogeneity of RTS-II, and report the effect of pathogenic  variants by  predictions and transcripts analyses. Complete phenotype of patients $\#$39 and $\#$42 whose affected siblings developed osteosarcoma correlates with their c.[1048_1049del], c.[1878+32_1878+55del] and c.[1568G>C;1573delT], c.[3021_3022del] variants which damage the helicase domain. Literature survey highlights enrichment of these variants affecting the helicase domain in patients with cancer outcome raising the issue of strict oncological surveillance. Conversely, patients $\#$29 and $\#$19 have a mild phenotype and carry, respectively, the unreported homozygous c.3265G>T and c.3054A>G variants, both sparing the helicase domain. Finally, despite matching several criteria for RTS clinical diagnosis, patient $\#$38 is heterozygous for c.2412_2414del; no pathogenic CNVs out of those evidenced by high-resolution CGH-array, emerged as contributors to her phenotype.</p>},
	keywords = {Adolescent, Adult, Cell Line, Tumor, Child, Female, Homozygote, Humans, Male, Mutation, Pedigree, Phenotype, RecQ Helicases, Rothmund-Thomson Syndrome},
	issn = {1422-0067},
	doi = {10.3390/ijms19041103},
	author = {Colombo, Elisa A and Locatelli, Andrea and Cubells S{\'a}nchez, Laura and Romeo, Sara and Elcioglu, Nursel H and Maystadt, Isabelle and Esteve Mart{\'\i}nez, Altea and Sironi, Alessandra and Fontana, Laura and Finelli, Palma and Gervasini, Cristina and Pecile, Vanna and Larizza, Lidia}
}
@article {7783,
	title = {Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.},
	journal = {Hum Genet},
	volume = {134},
	year = {2015},
	month = {2015 Jun},
	pages = {613-26},
	abstract = {<p>Rubinstein-Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP (~55\% of cases) and EP300 (~8\%) genes. The CREBBP mutational spectrum is variegated and characterized by point mutations (30-50 \%) and deletions (~10\%). The latter are diverse in size and genomic position and remove either the whole CREBBP gene and its flanking regions or only an intragenic portion. Here, we report 14 novel CREBBP deletions ranging from single exons to the whole gene and flanking regions which were identified by applying complementary cytomolecular techniques: fluorescence in situ hybridization, multiplex ligation-dependent probe amplification and array comparative genome hybridization, to a large cohort of RSTS patients. Deletions involving CREBBP account for 23\% of our detected CREBBP mutations, making an important contribution to the mutational spectrum. Genotype-phenotype correlations revealed that patients with CREBBP deletions extending beyond this gene did not always have a more severe phenotype than patients harboring CREBBP point mutations, suggesting that neighboring genes play only a limited role in the etiopathogenesis of CREBBP-centerd contiguous gene syndrome. Accordingly, the extent of the deletion is not predictive of the severity of the clinical phenotype.</p>},
	keywords = {Adolescent, Adult, Base Sequence, Child, Child, Preschool, Cohort Studies, CREB-Binding Protein, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Point Mutation, Rubinstein-Taybi Syndrome, Sequence Deletion},
	issn = {1432-1203},
	doi = {10.1007/s00439-015-1542-9},
	author = {Rusconi, Daniela and Negri, Gloria and Colapietro, Patrizia and Picinelli, Chiara and Milani, Donatella and Spena, Silvia and Magnani, Cinzia and Silengo, Margherita Cirillo and Sorasio, Lorena and Curtisova, Vaclava and Cavaliere, Maria Luigia and Prontera, Paolo and Stangoni, Gabriela and Ferrero, Giovanni Battista and Biamino, Elisa and Fischetto, Rita and Piccione, Maria and Gasparini, Paolo and Salviati, Leonardo and Selicorni, Angelo and Finelli, Palma and Larizza, Lidia and Gervasini, Cristina}
}
