ArticleAmerican journal of human genetics2002
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 59 citations in OpenAlex.
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Kinase Inhibitors in Genetic Diseases.International journal of molecular sciences · 2023Review
- Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.Genes · 2021Review
- Moonlighting of mitotic regulators in cilium disassembly.Cellular and molecular life sciences : CMLS · 2021Review
- Rescue of cone function in cone-onlyMolecular vision · 2018Article
- Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.Journal of cell science · 2014Article
- Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.Molecular genetics & genomic medicine · 2014Article
- Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Vision research · 2012Review
- Ciliopathies: an expanding disease spectrum.Pediatric nephrology (Berlin, Germany) · 2011Review
- Abnormalities in focal adhesion complex formation, regulation, and function in human autosomal recessive polycystic kidney disease epithelial cells.American journal of physiology. Cell physiology · 2010Article
- Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome.Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye · 2010Article
- Nephronophthisis: disease mechanisms of a ciliopathy.Journal of the American Society of Nephrology : JASN · 2009Review
- Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation.Clinical and experimental nephrology · 2008Article
- Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.American journal of human genetics · 2003Article
- Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.Journal of medical genetics · 2003Review
- A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.American journal of human genetics · 2002Article
- Diverse phenotypic expression of NPHP4 mutations in four siblings.The Turkish journal of pediatricsArticle
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To identify a new locus for NPHP, we here report on total-genome linkage analysis in seven families with NPHP, in whom we had excluded linkage to all three known NPHP loci. LOD scores >1 were obtained at nine loci, which were then fine mapped at 1-cM intervals. Extensive total-genome haplotype analysis revealed homozygosity in one family, in the region of the PCLN1 gene. Subsequent mutational analysis in this gene revealed PCLN1 mutations, thereby allowing exclusion of this family as a phenocopy. Multipoint linkage analysis for the remaining six families with NPHP together yielded a maximum LOD score (Z(max)) of 8.9 (at D1S253). We thus identified a new locus, NPHP4, for nephronophthisis. Markers D1S2660 and D1S2642 are flanking NPHP4 at a 2.9-cM critical interval. In one family with NPHP4, extensive genealogical studies were conducted, revealing consanguinity during the 17th century. On the basis of haplotype sharing by descent, we obtained a multipoint Z(max) of 5.8 for D1S253 in this kindred alone. In addition, we were able to localize to the NPHP4 locus a new locus for Senior-Løken syndrome, an NPHP variant associated with retinitis pigmentosa.
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