Clin Genet. 2018 Jul;94(1):187-188. doi: 10.1111/cge.13242. Epub 2018 Mar 13.
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.
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.