Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1993 Apr;3(4):342-5.
doi: 10.1038/ng0493-342.

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

C Antignac  1 , C H Arduy, J S Beckmann, F Benessy, F Gros, M Medhioub, F Hildebrandt, J L Dufier, C Kleinknecht, M Broyer, et al.
Affiliations

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

C Antignac et al. Nat Genet. 1993 Apr.

Abstract

Familial juvenile nephronophthisis (NPH) is a chronic autosomal recessive kidney disease responsible for 15% of end stage renal failure in children. NPH is frequently (16% of cases) associated with Leber amaurosis (termed Senior-Løken syndrome, SLS). Linkage analyses, performed in 22 multiplex NPH families (18 without and 4 with ocular abnormalities), have localized the gene to a region between D2S48 and D2S51 on chromosome 2p. This was confirmed using adjacent microsatellite markers, one of which (AFM220ze3 at the D2S160 locus) gave a lod score of 4.78 at theta = 0.05 in the 18 families with isolated NPH, whereas the same marker excluded linkage with SLS. These results demonstrate linkage of the purely renal form of NPH to chromosome 2p, and suggest that there may be genetic heterogeneity between NPH and SLS.

PubMed Disclaimer

Publication types