ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Article
- ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Genetics of congenital anomalies of the hand.World journal of orthopedics · 2022Article
- Loss of CLDN5 in podocytes deregulates WIF1 to activate WNT signaling and contributes to kidney disease.Nature communications · 2022Article
- Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium.Communications biology · 2021Article
- Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.Pediatric nephrology (Berlin, Germany) · 2020Article
- Genetic variant of WIF1 gene is functionally associated with developmental dysplasia of the hip in Han Chinese population.Scientific reports · 2019Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
purposeNail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome. Pathogenic mutations in a single gene, LMX1B, a mesenchymal determinant of dorsal-ventral patterning, explain approximately 95% of Nail-Patella syndrome cases. However, 5% of cases remain unexplained.
methodsHere, we present exome sequencing and analysis of four generations of a family with a dominantly inherited Nail-Patella-like disorder (nail dysplasia with some features of Nail-Patella syndrome) who tested negative for LMX1B mutation.
resultsWe identify a loss-of-function mutation in WIF1 (NM_007191 p.W15*), which is involved in mesoderm segmentation, as the suspected cause of the Nail-Patella-like disorder observed in this family.
conclusionsMutation of WIF1 is a potential novel cause of a Nail-Patella-like disorder. Testing of additional patients negative for LMX1B mutation is needed to confirm this finding and further clarify the phenotype.Genet Med advance online publication 06 April 2017.
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