Clin Genet. 2018 Jul;94(1):187-188. doi: 10.1111/cge.13242. Epub 2018 Mar 13.
https://www.ncbi.nlm.nih.gov/pubmed/29532936
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.
Anglani F1, Terrin L1, Brugnara M2, Battista M3, Cantaluppi V3, Ceol M1, Bertoldi L4, Valle G4, Joy MP5, Pober BR5, Longoni M5.
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Abstract
Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.PMID: 29532936 PMCID: PMC5995642 DOI: 10.1111/cge.13242[Indexed for MEDLINE] Free PMC Article
