Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5588359 | Metabolism | 2017 | 34 Pages |
Abstract
Our work highlights that mutations in different POLD1 domains can lead to phenotypic variability, ranging from dominantly inherited cancer predisposition syndromes, to mild MDPL phenotypes without lifespan reduction, to very severe MDPL syndromes with major premature aging features. These results also suggest that POLD1 gene testing should be considered in patients presenting with severe progeroid features.
Keywords
Burrows-Wheeler alignerGATKLMNAERCC6CGHWESZNFZMPSTE24OFCMADCysSNVsHGPSMAFWRNBWAMandibuloacral dysplasiaZnF2DNA polymerase δDNAGenome Analysis Toolkitdeoxyribonucleic acidsingle nucleotide variantsZinc fingercomparative genomic hybridizationWhole-exome sequencingWhole exome sequencingPercentileWerner syndromebody mass indexBMIminor allele frequencylipodystrophypolymerase chain reactionPCRLamin A/Cpol δ
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Authors
Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre-Giovannoli,