Retinitis pigmentosa and renal failure in a patient with mutations in INVS.

Abstract

BACKGROUND:

Nephronophthisis (NPHP) is an autosomal recessive disease, which is the most common genetic cause of end-stage renal disease in the first three decades of life. The disease is caused by mutations in the NPHP 1-5 genes, and is referred to as NPHP types 1-5, respectively. The association of NPHP and retinitis pigmentosa (RP) is known as Senior-Loken syndrome (SLS). The RP is associated with 10% of cases of NPHP types 1, 3 and 4, and all cases of NPHP type 5, but never in NPHP type 2, the infantile form of NPHP. The NPHP type 2 is distinguished from other types of NPHP by its early age of onset and by cystic enlargement of the kidneys.

METHODS:

Mutational analysis of all five NPHP genes was performed by exon sequencing in a child with infantile NPHP and RP from a consanguineous kindred.

RESULTS:

A homozygous mutation was identified in exon 13 of inversin (INVS) (C2719T, R907X) in this child.

CONCLUSIONS:

This is the first report of the presence of RP in a patient with NPHP type 2 and INVS mutations. This report now extends the association of RP with NPHP to NPHP type 2.

• Authors: John F O'Toole, Edgar A Otto, Yaacov Frishberg, Friedhelm Hildebrandt
• Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (Nephrol Dial Transplant) Vol. 21 Issue 7 Pg. 1989-91 (Jul 2006) ISSN: 0931-0509 [Print] England
• PMID: 16522655 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• INVS protein, human
• Transcription Factors

Topics

• Child, Preschool
• DNA Mutational Analysis
• Exons
• Family Health
• Female
• Fibrosis
• Homozygote
• Humans
• Kidney (metabolism)
• Male
• Mutation
• Pedigree
• Renal Insufficiency (complications, genetics)
• Retinitis Pigmentosa (complications, genetics)
• Transcription Factors (genetics)