Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the <i><scp>RECQL</scp>4</i> and <i><scp>USB</scp>1 (C16orf57)</i> gene

Abstract

The current study contributes to the improvement of genetic diagnostic strategies and interpretation in RTS and PN that is relevant in order to assess the patients' cancer risk, to avoid continuous and inconclusive clinical evaluations and to clarify the recurrence risk in the families. Additionally, it shows that the phenotype of more than 50% of the patients with suspected Rothmund-Thomson disease may be due to mutations in other genes raising the need for further extended genetic analyses.