Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene

Am J Med Genet A. 2013 Jul;161A(7):1792-6. doi: 10.1002/ajmg.a.36036. Epub 2013 May 24.


Nephronophthisis associated ciliopathies (NPHP-AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and Senior-Loken syndrome. We report on a male fetus with prenatal ultrasound findings at 24 weeks of gestation of anhydramnios, large and echogenic kidneys and situs inversus totalis. Histopathology revealed nephronophthisis and tracheal mucosa electron microscopy revealed ciliary dysgenesis. DNA analysis of the NPHP genes showed a previously unreported homozygous mutation, p.Arg603* (c.1078+1G>A), in the INVS/NPHP2 gene. This mutation is thought to abolish the splice donor site for exon 8, which likely disrupts the normal splicing of the INVS/NPHP2 gene.

Publication types

  • Case Reports

MeSH terms

  • Cilia / pathology*
  • Female
  • Homozygote
  • Humans
  • Kidney / abnormalities*
  • Kidney / embryology
  • Kidney Diseases, Cystic / diagnostic imaging
  • Kidney Diseases, Cystic / genetics*
  • Male
  • Mutation*
  • Pregnancy
  • RNA Splice Sites
  • Respiratory Mucosa / pathology
  • Situs Inversus / genetics
  • Situs Inversus / pathology
  • Transcription Factors / genetics*
  • Ultrasonography, Prenatal


  • INVS protein, human
  • RNA Splice Sites
  • Transcription Factors

Supplementary concepts

  • Nephronophthisis 2