Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report
2015
Аутори
Skodrić-Trifunović, VesnaStjepanović, Mihailo
Savić, Zivorad
Ilić, Miroslav
Kavecan, Ivana
Privrodski, Jadranka Jovanovic
Spasovski, Vesna
Stojiljković, Maja
Pavlović, Sonja
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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).
Извор:
Croatian Medical Journal, 2015, 56, 1, 63-67Издавач:
- Medicinska Naklada, Zagreb
Финансирање / пројекти:
- Изучавање патофизиолошких процеса код ембриона и фетуса у трудноћама насталим асистираном репродукцијом и усавршавање поступака за њихово правовремено откривање (RS-MESTD-Basic Research (BR or ON)-175064)
- Ретке болести: молекуларна патофизиологија, дијагностички и терапијски модалитети и социјални, етички и правни аспекти (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
Колекције
Институција/група
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 . .