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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Main Authors: Paula Conde-Rubio, Ana Julia García-Malinis, Elvira Salvador-Rupérez, Silvia Izquierdo Álvarez, Ricardo González-Tarancón
Format: Article
Language:English
Published: SpringerOpen 2023-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
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.
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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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