Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report
2015
Authors
Skodrić-Trifunović, VesnaStjepanović, Mihailo
Savić, Zivorad
Ilić, Miroslav
Kavecan, Ivana
Privrodski, Jadranka Jovanovic
Spasovski, Vesna
Stojiljković, Maja
Pavlović, Sonja
Article (Published version)
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Show full item recordAbstract
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical examination, radiological and CT imaging, and mutation screening of PTCH1 gene were performed. Family members, as well as eleven healthy controls were included in the study. Both patients fulfilled the specific criteria for diagnosis of Gorlin syndrome. Molecular analysis of the first patient showed a novel frameshift mutation in exon 6 of PTCH1gene (c.903delT). Additionally, a somatic frameshift mutation in exon 21 (c.3524delT) along with germline mutation in exon 6 was detected in tumor-derived tissue sample of this patient. Analysis of the second patient, as well as two affected family members, ...revealed a novel nonsense germline mutation in exon 8 (c.1148 C gt A).
Source:
Croatian Medical Journal, 2015, 56, 1, 63-67Publisher:
- Medicinska Naklada, Zagreb
Funding / projects:
- Investigation of pathophysiological processes in the embryo and fetuses in pregnancies conceived by assisted reproduction technique (art) and procedure improvement for its timely detection (RS-MESTD-Basic Research (BR or ON)-175064)
- Rare Diseases:Molecular Pathophysiology, Diagnostic and Therapeutic Modalities and Social, Ethical and Legal Aspects (RS-MESTD-Integrated and Interdisciplinary Research (IIR or III)-41004)
DOI: 10.3325/cmj.2015.56.63
ISSN: 0353-9504
PubMed: 25727044
WoS: 000351718100009
Scopus: 2-s2.0-84924856778
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Institution/Community
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Skodrić-Trifunović, Vesna AU - Stjepanović, Mihailo AU - Savić, Zivorad AU - Ilić, Miroslav AU - Kavecan, Ivana AU - Privrodski, Jadranka Jovanovic AU - Spasovski, Vesna AU - Stojiljković, Maja AU - Pavlović, Sonja PY - 2015 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/874 AB - Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical examination, radiological and CT imaging, and mutation screening of PTCH1 gene were performed. Family members, as well as eleven healthy controls were included in the study. Both patients fulfilled the specific criteria for diagnosis of Gorlin syndrome. Molecular analysis of the first patient showed a novel frameshift mutation in exon 6 of PTCH1gene (c.903delT). Additionally, a somatic frameshift mutation in exon 21 (c.3524delT) along with germline mutation in exon 6 was detected in tumor-derived tissue sample of this patient. Analysis of the second patient, as well as two affected family members, revealed a novel nonsense germline mutation in exon 8 (c.1148 C gt A). PB - Medicinska Naklada, Zagreb T2 - Croatian Medical Journal T1 - Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report EP - 67 IS - 1 SP - 63 VL - 56 DO - 10.3325/cmj.2015.56.63 ER -
@article{ author = "Skodrić-Trifunović, Vesna and Stjepanović, Mihailo and Savić, Zivorad and Ilić, Miroslav and Kavecan, Ivana and Privrodski, Jadranka Jovanovic and Spasovski, Vesna and Stojiljković, Maja and Pavlović, Sonja", year = "2015", abstract = "Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical examination, radiological and CT imaging, and mutation screening of PTCH1 gene were performed. Family members, as well as eleven healthy controls were included in the study. Both patients fulfilled the specific criteria for diagnosis of Gorlin syndrome. Molecular analysis of the first patient showed a novel frameshift mutation in exon 6 of PTCH1gene (c.903delT). Additionally, a somatic frameshift mutation in exon 21 (c.3524delT) along with germline mutation in exon 6 was detected in tumor-derived tissue sample of this patient. Analysis of the second patient, as well as two affected family members, revealed a novel nonsense germline mutation in exon 8 (c.1148 C gt A).", publisher = "Medicinska Naklada, Zagreb", journal = "Croatian Medical Journal", title = "Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report", pages = "67-63", number = "1", volume = "56", doi = "10.3325/cmj.2015.56.63" }
Skodrić-Trifunović, V., Stjepanović, M., Savić, Z., Ilić, M., Kavecan, I., Privrodski, J. J., Spasovski, V., Stojiljković, M.,& Pavlović, S.. (2015). Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report. in Croatian Medical Journal Medicinska Naklada, Zagreb., 56(1), 63-67. https://doi.org/10.3325/cmj.2015.56.63
Skodrić-Trifunović V, Stjepanović M, Savić Z, Ilić M, Kavecan I, Privrodski JJ, Spasovski V, Stojiljković M, Pavlović S. Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report. in Croatian Medical Journal. 2015;56(1):63-67. doi:10.3325/cmj.2015.56.63 .
Skodrić-Trifunović, Vesna, Stjepanović, Mihailo, Savić, Zivorad, Ilić, Miroslav, Kavecan, Ivana, Privrodski, Jadranka Jovanovic, Spasovski, Vesna, Stojiljković, Maja, Pavlović, Sonja, "Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report" in Croatian Medical Journal, 56, no. 1 (2015):63-67, https://doi.org/10.3325/cmj.2015.56.63 . .