Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes. (26th March 2014)

• Record Type: Journal Article
• Authors: 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.; Thauvin‐Robinet, C.;
• Is Part Of: Clinical genetics. Volume 87:Number 3(2015:Mar.)
• Page Start: 244
• Page End: 251
• Publication Date: 2014-03-26
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12361
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12361-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12361-para-0001">Three overlapping conditions, namely Rothmund–Thomson (RTS), Baller‐Gerold (BGS) and RAPADILINO syndromes, have been attributed to <italic>RECQL4</italic> mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of <italic>RECQL4</italic> sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of <italic>RECQL4</italic> mutations in a series of 39 patients referred for <italic>RECQL4</italic> molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious <italic>RECQL4</italic> 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 <italic>RECQL4</italic> mutations were found in the BGS group without poikiloderma, confirming that <italic>RECQL4</italic> sequencing was not indicated in this phenotype. One chromosomal abnormality and one <italic>TWIST</italic> mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of <italic>RECQL4</italic> 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.</p> </abstract>