A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
Abstract Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes. It is characterized by multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neopl...
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Format: | Article |
Language: | English |
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SpringerOpen
2023-12-01
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Series: | Egyptian Journal of Medical Human Genetics |
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Online Access: | https://doi.org/10.1186/s43042-023-00463-5 |
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author | Paula Conde-Rubio Ana Julia García-Malinis Elvira Salvador-Rupérez Silvia Izquierdo Álvarez Ricardo González-Tarancón |
author_facet | Paula Conde-Rubio Ana Julia García-Malinis Elvira Salvador-Rupérez Silvia Izquierdo Álvarez Ricardo González-Tarancón |
author_sort | Paula Conde-Rubio |
collection | DOAJ |
description | Abstract Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes. It is characterized by multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neoplasms. Case presentation A novel splice-site variant in the PTCH1 gene, c.3549+1G>T classified as pathogenic, was identified in a patient with a phenotype compatible with GS (multiple basal cell carcinomas and skeletal malformations). Conclusions This case contributes to expand the spectrum of identified variants in Gorlin syndrome increasing knowledge about molecular bases and the diagnosis approach of this syndrome. |
first_indexed | 2024-03-08T22:38:13Z |
format | Article |
id | doaj.art-46c57eda6d564db19d46ba1e10a704e0 |
institution | Directory Open Access Journal |
issn | 2090-2441 |
language | English |
last_indexed | 2024-03-08T22:38:13Z |
publishDate | 2023-12-01 |
publisher | SpringerOpen |
record_format | Article |
series | Egyptian Journal of Medical Human Genetics |
spelling | doaj.art-46c57eda6d564db19d46ba1e10a704e02023-12-17T12:19:45ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412023-12-012411810.1186/s43042-023-00463-5A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case reportPaula Conde-Rubio0Ana Julia García-Malinis1Elvira Salvador-Rupérez2Silvia Izquierdo Álvarez3Ricardo González-Tarancón4Department of Clinical Biochemistry, Cruces University HospitalDepartment of Dermatology, San Jorge University HospitalDepartment of Clinical Biochemistry, Miguel Servet University HospitalDepartment of Clinical Biochemistry, Miguel Servet University HospitalDepartment of Clinical Biochemistry, Miguel Servet University HospitalAbstract Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes. It is characterized by multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neoplasms. Case presentation A novel splice-site variant in the PTCH1 gene, c.3549+1G>T classified as pathogenic, was identified in a patient with a phenotype compatible with GS (multiple basal cell carcinomas and skeletal malformations). Conclusions This case contributes to expand the spectrum of identified variants in Gorlin syndrome increasing knowledge about molecular bases and the diagnosis approach of this syndrome.https://doi.org/10.1186/s43042-023-00463-5Gorlin syndromeBasal cell carcinomaJaw cystPTCH1c.3549+1G>T |
spellingShingle | Paula Conde-Rubio Ana Julia García-Malinis Elvira Salvador-Rupérez Silvia Izquierdo Álvarez Ricardo González-Tarancón A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report Egyptian Journal of Medical Human Genetics Gorlin syndrome Basal cell carcinoma Jaw cyst PTCH1 c.3549+1G>T |
title | A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report |
title_full | A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report |
title_fullStr | A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report |
title_full_unstemmed | A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report |
title_short | A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report |
title_sort | novel pathogenic splice site variant in the ptch1 gene c 3549 1g t associated with gorlin syndrome a case report |
topic | Gorlin syndrome Basal cell carcinoma Jaw cyst PTCH1 c.3549+1G>T |
url | https://doi.org/10.1186/s43042-023-00463-5 |
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