These authors contributed equally to this work.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes
Article first published online: 26 MAR 2014
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 87, Issue 3, pages 244–251, March 2015
How to Cite
Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L. and Thauvin-Robinet, C. (2015), Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes. Clinical Genetics, 87: 244–251. doi: 10.1111/cge.12361
The authors declare that they have no conflict of interest.
- Issue published online: 12 FEB 2015
- Article first published online: 26 MAR 2014
- Accepted manuscript online: 14 FEB 2014 09:41AM EST
- Manuscript Revised: 12 FEB 2014
- Manuscript Accepted: 12 FEB 2014
- Manuscript Received: 12 NOV 2013
- Arc-En-Ciel Wittring
- Regional Council of Burgundy
- Baller-Gerold syndrome;
- Rothmund–Thomson syndrome
Three overlapping conditions, namely Rothmund–Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.