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Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Oct; Vol. 19 (10), pp. 1179-1183. Date of Electronic Publication: 2017 Apr 06. - Publication Year :
- 2017
-
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.<br />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.<br />Results: We identify a loss-of-function mutation in WIF1 (NM&#95;007191 p.W15*), which is involved in mesoderm segmentation, as the suspected cause of the Nail-Patella-like disorder observed in this family.<br />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.
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 19
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 28383544
- Full Text :
- https://doi.org/10.1038/gim.2017.20