ArticleAmerican journal of human genetics2000
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 111 citations in OpenAlex.
- Article
- IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.American journal of ophthalmology · 2024Article
- Nephronophthisis: a pathological and genetic perspective.Pediatric nephrology (Berlin, Germany) · 2024Review
- TheBiomedicines · 2024Review
- Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.The American journal of case reports · 2023Article
- [Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.Kidney international reports · 2022Article
- Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality.Journal of cellular and molecular medicine · 2022Article
- Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.Genes · 2021Review
- Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.Frontiers in cell and developmental biology · 2021Review
- Review
- Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family.BMC nephrology · 2019Article
- Article
- Ciliopathies.Cold Spring Harbor perspectives in biology · 2017Review
- Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.Frontiers in pediatrics · 2017Review
- Clinical and genetic characteristics of Japanese nephronophthisis patients.Clinical and experimental nephrology · 2016Article
- Identification of an NPHP1 deletion causing adult form of nephronophthisis.Irish journal of medical science · 2016Article
- Nephronophthisis and related syndromes.Current opinion in pediatrics · 2015Review
- Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.Iranian journal of kidney diseases · 2015Article
- Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Vision research · 2012Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nephronophthisis, an autosomal-recessive cystic kidney disease, is the most frequent monogenic cause for renal failure in childhood. Infantile and juvenile forms of nephronophthisis are known to originate from separate gene loci. We describe here a new disease form, adolescent nephronophthisis, that is clearly distinct by clinical and genetic findings. In a large, 340-member consanguineous Venezuelan kindred, clinical symptoms and renal pathology were evaluated. Onset of terminal renal failure was compared with that in a historical sample of juvenile nephronophthisis. Onset of terminal renal failure in adolescent nephronophthisis occurred significantly later (median age 19 years, quartile borders 16.0 and 25.0 years) than in juvenile nephronophthisis (median age 13.1 years, quartile borders 11.3 and 17.3 years; Wilcoxon test P=.0069). A total-genome scan of linkage analysis was conducted and evaluated by LOD score and total-genome haplotype analyses. A gene locus for adolescent nephronophthisis was localized to a region of homozygosity by descent, on chromosome 3q22, within a critical genetic interval of 2. 4 cM between flanking markers D3S1292 and D3S1238. The maximum LOD score for D3S1273 was 5.90 (maximum recombination fraction.035). This locus is different than that identified for juvenile nephronophthisis. These findings will have implications for diagnosis and genetic counseling in hereditary chronic renal failure and provide the basis for identification of the responsible gene.
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