1. Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
- Author
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Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, and Torkamani A
- Subjects
- Adaptor Proteins, Signal Transducing metabolism, Adolescent, Adult, Aged, Female, Humans, Kidney metabolism, LIM-Homeodomain Proteins genetics, LIM-Homeodomain Proteins metabolism, Male, Mutation, Nail-Patella Syndrome metabolism, Patella, Pedigree, Phenotype, Repressor Proteins metabolism, Transcription Factors genetics, Transcription Factors metabolism, Adaptor Proteins, Signal Transducing genetics, Nail-Patella Syndrome genetics, Repressor Proteins genetics
- Abstract
Purpose: Nail-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., Methods: Here, 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., Results: We 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., Conclusions: Mutation 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.
- Published
- 2017
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