A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

Autor:	Paula Conde-Rubio, Ana Julia García-Malinis, Elvira Salvador-Rupérez, Silvia Izquierdo Álvarez, Ricardo González-Tarancón
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	Gorlin syndrome Basal cell carcinoma Jaw cyst PTCH1 c.3549+1G>T Medicine (General) R5-920 Genetics QH426-470
Zdroj:	Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-8 (2023)
Druh dokumentu:	article
ISSN:	2090-2441
DOI:	10.1186/s43042-023-00463-5
Popis:	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.
Databáze:	Directory of Open Access Journals
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