Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome

Clin Genet. 2018 Jul;94(1):187-188. doi: 10.1111/cge.13242. Epub 2018 Mar 13.

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.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Aged
  • Agenesis of Corpus Callosum / diagnosis*
  • Agenesis of Corpus Callosum / genetics
  • Alleles
  • Diagnosis, Differential
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Hernias, Diaphragmatic, Congenital / diagnosis*
  • Hernias, Diaphragmatic, Congenital / genetics
  • Humans
  • Hypercalciuria / diagnosis*
  • Hypercalciuria / genetics
  • Low Density Lipoprotein Receptor-Related Protein-2 / genetics
  • Male
  • Myopia / diagnosis*
  • Myopia / genetics
  • Nephrolithiasis / diagnosis*
  • Nephrolithiasis / genetics
  • Phenotype*
  • Proteinuria / diagnosis*
  • Proteinuria / genetics
  • Renal Tubular Transport, Inborn Errors / diagnosis*
  • Renal Tubular Transport, Inborn Errors / genetics

Substances

  • LRP2 protein, human
  • Low Density Lipoprotein Receptor-Related Protein-2

Supplementary concepts

  • Donnai-Barrow syndrome