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Article

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

American journal of human genetics - 1 May 2014

Lindstrand Anna, Davis Erica E, Carvalho Claudia M B, Pehlivan Davut, Willer Jason R, Tsai I-Chun, Ramanathan Subhadra, Zuppan Craig, Sabo Aniko, Muzny Donna, Gibbs Richard, Liu Pengfei, Lewis Richard A, Banin Eyal, Lupski James R, Clark Robin, Katsanis Nicholas

Abstract excerpt

Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has also been detected in individuals with Joubert syndrome (JBTS), and in the mouse, Nphp1 interacts genetically with Ahi1, a known JBTS locus. Given these observations, we investigated the contribution of NPHP1 in Bardet-Biedl syndrome (BBS), a...

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Identifiers

PMID: 24746959
DOI: 10.1016/j.ajhg.2014.03.017
PMCID: PMC4067552

Genes

NPHP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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