Peripheral neuropathy in patients with inflammatory bowel disease Academic Article uri icon


MeSH Major

  • Inflammatory Bowel Diseases
  • Peripheral Nervous System Diseases


  • Recently, we reported that mutations in the R-spondin 4 (RSPO4) gene underlie inherited anonychia/hyponychia. Here, we studied five consanguineous Pakistani families with recessive inheritance of a combination of anonychia and hyponychia. Homozygous mutations were identified in the RSPO4 gene in all five families. Three families had a splice site mutation at the exon 2-intron 2 boundary. One family had a 26 bp deletion encompassing the start codon, and the final family had a missense mutation changing the initiating methionine to isoleucine. We demonstrated by in situ hybridization that Rspo4 is exclusively expressed in the mesenchyme underlying the digit tip epithelium in the mouse at embryonic day 14.5 (e14.5). These findings expand our understanding of the role of RSPO4 in nail development and disease.

publication date

  • April 2005



  • Academic Article



  • eng

Digital Object Identifier (DOI)

  • 10.1093/brain/awh429

PubMed ID

  • 15705608

Additional Document Info

start page

  • 867

end page

  • 70


  • 128


  • 4