@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}
}
