Journal article
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
E Beauregard-Lacroix, G Pacheco-Cuellar, NF Ajeawung, J Tardif, K Dieterich, T Dabir, D Vind-Kezunovic, SM White, D Zadori, C Castiglioni, L Tranebjærg, PM Tørring, E Blair, M Wisniewska, MV Camurri, Y van Bever, S Molidperee, J Taylor, A Dionne-Laporte, SM Sisodiya Show all
Genetics in Medicine | ELSEVIER SCIENCE INC | Published : 2021
Abstract
Purpose: Biallelic variants in TBC1D24, which encodes a protein that regulates vesicular transport, are frequently identified in patients with DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [previously referred to as mental retardation], and seizures) syndrome. The aim of the study was to identify a genetic cause in families with DOORS syndrome and without a TBC1D24 variant. Methods: Exome or Sanger sequencing was performed in individuals with a clinical diagnosis of DOORS syndrome without TBC1D24 variants. Results: We identified the same truncating variant in ATP6V1B2 (NM_001693.4:c.1516C>T; p.Arg506*) in nine individuals from eight unrelated families with DOORS s..
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Funding Acknowledgements
We thank all families. This study was funded in part by Canadian Institutes of Health Research and Fonds de la Recherche du Quebec-Sante awards to P.M.C.