ArticleIrish journal of medical science2016
Identification of an NPHP1 deletion causing adult form of nephronophthisis.
Article in Irish journal of medical science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Detection of the NPHP4 c.2999_3005del (p.Asn1000SerfsTer4) variant in an Iranian family with nephronophthisis-4.Molecular genetics and genomics : MGG · 2026Article
- Diverse retinal-kidney phenotypes associated withJournal of rare diseases (Berlin, Germany) · 2024Article
- Article
- A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.Molecular genetics & genomic medicine · 2022Review
- Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.Kidney international reports · 2021Article
- Difference of genomic copy numbers alterations between hairy cell leukemia-variant and classical hairy cell leukemia: a pilot retrospective study in Chinese.International journal of medical sciences · 2020Article
- 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
- Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.Pediatric nephrology (Berlin, Germany) · 2018Observational
- Article
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsNephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney with main characteristic features of polyuria/polydipsia, mild or absent proteinuria, interstitial fibrosis, and tubular cysts. NPHP is responsible for 5-10 % of inheritable end-stage renal disease (ESRD) cases. We investigated the clinical features and genetic cause of NPHP in a Persian family with three siblings affected by tubulointerstitial nephropathy reaching ESRD in adulthood.
methodsUromodulin (UMOD), known to be involved in adult medullary cystic kidney disease, and nephronophthisis 1 (NPHP1) were investigated in the genomic DNA of the probands using DNA sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis and molecular karyotyping.
resultsNo mutation was detected in UMOD. Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons. The parents were heterozygous for this deletion. Whole genome array-CGH analysis confirmed a homozygous deletion on chromosome 2q13, NPHP1 site, and revealed that the size of the copy number loss was approximately 102 Kbp.
conclusionThis is the first report of determination of an NPHP1 deletion size using routine diagnostic methods. The results of this study expand the knowledge about the genotype-phenotype correlations in NPHP1, and have implications for genetic counseling and family planning advice for other affected families. This is the first molecular analysis of NPHP1 in an Iranian kindred.
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