Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome

Nephrology (Carlton). 2013 Dec;18(12):838-42. doi: 10.1111/nep.12156.


Senior-Løken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Løken syndrome. NPHP5 mutations are known to cause classical Senior-Løken syndrome. Here, we report two sisters (II-4, II-5) from a Chinese Han ethnic family who presented with classical Senior-Løken syndrome. Both affected sisters exhibited Leber's congenital amaurosis and juvenile nephronophthisis that progressed to end-stage renal disease by the age of 16 years and 9 months in patient II-4 and 12 years and 9 months in patient II-5. Sequence analysis showed a homozygous truncated mutation in NPHP5, c.1090C>T (p.R364X), in the patient II-4. This mutation is predicted to introduce a new open reading frame that results in the truncation of the C-terminal 235 amino acids of nephrocystin-5 and its consequent loss of function. Both parents carried a single heterozygous mutation in the same position, and no homozygous deletion of NPHP1 was found in this pedigree.

Keywords: Leber's congenital amaurosis; NPHP5; Senior-Løken syndrome; nephrocystin-5; nephronophthisis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Calmodulin-Binding Proteins / genetics*
  • Child
  • Ciliopathies
  • Female
  • Humans
  • Kidney Diseases, Cystic / genetics*
  • Leber Congenital Amaurosis / genetics*
  • Male
  • Mutation*
  • Optic Atrophies, Hereditary / genetics*


  • Calmodulin-Binding Proteins
  • IQCB1 protein, human

Supplementary concepts

  • Senior Loken Syndrome