دورية
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder
| العنوان: | Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder |
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| المؤلفون: | Jones, Marilyn C., Topol, Sarah E., Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G., Torkamani, Ali |
| المصدر: | Genetics in Medicine; October 2017, Vol. 19 Issue: 10 p1179-1183, 5p |
| مستخلص: | 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 |
| قاعدة البيانات: | Supplemental Index |
Full Text Finder | تدمد: | 10983600 15300366 |
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| DOI: | 10.1038/gim.2017.20 |