Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

ConclusionThe 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.

We report on genotype and phenotype data of a cohort of 44 index patients with clinically suspected Rothmund–Thomson syndrome (RTS) or related genodermatoses. We describe 23 different RECQL4 mutations including 10 novel and one homozygous novel USB1 (C16orf57) mutation as well as 31 RECQL4 and 8 USB1 sequence variants. Our 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.

Source: Molecular Genetics & Genomic Medicine - January 1, 2016 Category: Genetics & Stem Cells Authors: Aude‐Annick Suter, Peter Itin, Karl Heinimann, Munaza Ahmed, Tazeen Ashraf, Helen Fryssira, Usha Kini, Pablo Lapunzina, Peter Miny, Mette Sommerlund, Mohnish Suri, Signe Vaeth, Pradeep Vasudevan, Sabina Gallati Tags: Original Article Source Type: research