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Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder
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 dors...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629099/ https://www.ncbi.nlm.nih.gov/pubmed/28383544 http://dx.doi.org/10.1038/gim.2017.20 |
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author | Jones, Marilyn C. Topol, Sarah E. Rueda, Manuel Oliveira, Glenn Phillips, Tierney Spencer, Emily G. Torkamani, Ali |
author_facet | Jones, Marilyn C. Topol, Sarah E. Rueda, Manuel Oliveira, Glenn Phillips, Tierney Spencer, Emily G. Torkamani, Ali |
author_sort | Jones, Marilyn C. |
collection | PubMed |
description | 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 |
format | Online Article Text |
id | pubmed-5629099 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-56290992017-10-06 Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder Jones, Marilyn C. Topol, Sarah E. Rueda, Manuel Oliveira, Glenn Phillips, Tierney Spencer, Emily G. Torkamani, Ali Genet Med Brief Report 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 Nature Publishing Group 2017-10 2017-04-06 /pmc/articles/PMC5629099/ /pubmed/28383544 http://dx.doi.org/10.1038/gim.2017.20 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
spellingShingle | Brief Report Jones, Marilyn C. Topol, Sarah E. Rueda, Manuel Oliveira, Glenn Phillips, Tierney Spencer, Emily G. Torkamani, Ali Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder |
title | Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder |
title_full | Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder |
title_fullStr | Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder |
title_full_unstemmed | Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder |
title_short | Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder |
title_sort | mutation of wif1: a potential novel cause of a nail-patella-like disorder |
topic | Brief Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629099/ https://www.ncbi.nlm.nih.gov/pubmed/28383544 http://dx.doi.org/10.1038/gim.2017.20 |
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