A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report

Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental anomalies and a predisposition to neoplasms. Herein...

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Autores principales: Mashayekhi, Parisa, Omrani, Mir Davood, Tonekaboni, Seyed Hasan, Dehghanifard, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522635/
https://www.ncbi.nlm.nih.gov/pubmed/37752108
http://dx.doi.org/10.1038/s41439-023-00254-9
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author Mashayekhi, Parisa
Omrani, Mir Davood
Tonekaboni, Seyed Hasan
Dehghanifard, Ali
author_facet Mashayekhi, Parisa
Omrani, Mir Davood
Tonekaboni, Seyed Hasan
Dehghanifard, Ali
author_sort Mashayekhi, Parisa
collection PubMed
description Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental anomalies and a predisposition to neoplasms. Herein, we report a novel de novo splice site mutation in the PTCH1 gene related to mild developmental delay and autistic traits in a 4-year-old male patient.
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spelling pubmed-105226352023-09-28 A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report Mashayekhi, Parisa Omrani, Mir Davood Tonekaboni, Seyed Hasan Dehghanifard, Ali Hum Genome Var Data Report Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental anomalies and a predisposition to neoplasms. Herein, we report a novel de novo splice site mutation in the PTCH1 gene related to mild developmental delay and autistic traits in a 4-year-old male patient. Nature Publishing Group UK 2023-09-26 /pmc/articles/PMC10522635/ /pubmed/37752108 http://dx.doi.org/10.1038/s41439-023-00254-9 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Mashayekhi, Parisa
Omrani, Mir Davood
Tonekaboni, Seyed Hasan
Dehghanifard, Ali
A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
title A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
title_full A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
title_fullStr A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
title_full_unstemmed A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
title_short A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
title_sort novel de novo canonical splice site mutation in the ptch1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522635/
https://www.ncbi.nlm.nih.gov/pubmed/37752108
http://dx.doi.org/10.1038/s41439-023-00254-9
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