Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

doi:10.1038/s41431-018-0096-4

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Article

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

European journal of human genetics : EJHG - 1 Jul 2018

Mary Laura, Piton Amélie, Schaefer Elise, Mattioli Francesca, Nourisson Elsa, Feger Claire, Redin Claire, Barth Magali, El Chehadeh Salima, Colin Estelle, Coubes Christine, Faivre Laurence, Flori Elisabeth, Geneviève David, Capri Yline, Perrin Laurence, Fabre-Teste Jennifer, Timbolschi Dana, Verloes Alain, Olaso Robert, Boland Anne, Deleuze Jean-François, Mandel Jean-Louis, Gerard Bénédicte, Giurgea Irina

Abstract excerpt

High-throughput sequencing (HTS) of human genome coding regions allows the simultaneous screen of a large number of genes, significantly improving the diagnosis of non-syndromic intellectual disabilities (ID). HTS studies permit the redefinition of the phenotypical spectrum of known disease-causing genes, escaping the clinical inclusion bias of gene-by-gene Sanger sequencing. We studied a cohort of 903 patients...

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PMID: 29695756
DOI: 10.1038/s41431-018-0096-4
PMCID: PMC6018712

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TCF4

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