A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a...

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Autores principales: Altaraihi, M., Wadt, K., Ek, J., Gerdes, A. M., Ostergaard, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384928/
https://www.ncbi.nlm.nih.gov/pubmed/30820324
http://dx.doi.org/10.1038/s41439-019-0041-2
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author Altaraihi, M.
Wadt, K.
Ek, J.
Gerdes, A. M.
Ostergaard, E.
author_facet Altaraihi, M.
Wadt, K.
Ek, J.
Gerdes, A. M.
Ostergaard, E.
author_sort Altaraihi, M.
collection PubMed
description Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a premature stop codon. A summary of reported heterozygous individuals with germline PTCH2 variants along with the existence of a healthy homozygous individual question whether variants in PTCH2 are associated with NBCCS.
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spelling pubmed-63849282019-02-28 A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? Altaraihi, M. Wadt, K. Ek, J. Gerdes, A. M. Ostergaard, E. Hum Genome Var Data Report Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a premature stop codon. A summary of reported heterozygous individuals with germline PTCH2 variants along with the existence of a healthy homozygous individual question whether variants in PTCH2 are associated with NBCCS. Nature Publishing Group UK 2019-02-22 /pmc/articles/PMC6384928/ /pubmed/30820324 http://dx.doi.org/10.1038/s41439-019-0041-2 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Altaraihi, M.
Wadt, K.
Ek, J.
Gerdes, A. M.
Ostergaard, E.
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
title A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
title_full A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
title_fullStr A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
title_full_unstemmed A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
title_short A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
title_sort healthy individual with a homozygous ptch2 frameshift variant: are variants of ptch2 associated with nevoid basal cell carcinoma syndrome?
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384928/
https://www.ncbi.nlm.nih.gov/pubmed/30820324
http://dx.doi.org/10.1038/s41439-019-0041-2
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