title: Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, California, USA.
authors.forename: Marilyn C
authors.identifier: 0000-0002-4512-2015
authors.initials: MC
authors.lastname: Jones
authors.affiliation: The Scripps Translational Science Institute, La Jolla, California, USA.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Topol
authors.affiliation: The Scripps Translational Science Institute, La Jolla, California, USA.
authors.forename: Manuel
authors.initials: M
authors.lastname: Rueda
authors.affiliation: The Scripps Translational Science Institute, La Jolla, California, USA.
authors.forename: Glenn
authors.identifier: 0000-0002-7786-0303
authors.initials: G
authors.lastname: Oliveira
authors.affiliation: The Scripps Translational Science Institute, La Jolla, California, USA.
authors.forename: Tierney
authors.identifier: 0000-0003-2389-8530
authors.initials: T
authors.lastname: Phillips
authors.affiliation: The Scripps Translational Science Institute, La Jolla, California, USA.
authors.forename: Emily G
authors.initials: EG
authors.lastname: Spencer
authors.affiliation: The Scripps Translational Science Institute, La Jolla, California, USA.|Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, California, USA.
authors.forename: Ali
authors.identifier: 0000-0003-0232-8053
authors.initials: A
authors.lastname: Torkamani
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007668:Kidney / Q000378:metabolism; D060850:LIM-Homeodomain Proteins / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation; D009261:Nail-Patella Syndrome / Q000235:genetics* / Q000378:metabolism; D010329:Patella; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D012097:Repressor Proteins; D014157:Transcription Factors; C485569:WIF1 protein, human