Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report

被引:3
|
作者
Skodric-Trifunovic, Vesna [1 ,2 ]
Stjepanovic, Mihailo [2 ]
Savic, Zivorad [3 ]
Ilic, Miroslav [4 ]
Kavecan, Ivana [5 ]
Privrodski, Jadranka Jovanovic [5 ]
Spasovski, Vesna [6 ]
Stojiljkovic, Maja [6 ]
Pavlovic, Sonja [6 ]
机构
[1] Univ Belgrade, Sch Med, Belgrade 11000, Serbia
[2] Clin Ctr Serbia, Clin Pulmonol, Belgrade, Serbia
[3] Clin Ctr Serbia, Ctr Radiol & Magnet Resonance, Belgrade, Serbia
[4] Univ Novi Sad, Fac Med, Clin Ctr Vojvodina, Dept Maxillofacial & Oral Surg, Novi Sad 21000, Serbia
[5] Univ Novi Sad, Fac Med, Inst Children & Youth Hlth Care Vojvodina, Ctr Med Genet, Novi Sad 21000, Serbia
[6] Univ Belgrade, Inst Mol Genet & Genet Engn, Belgrade 11000, Serbia
关键词
HUMAN HOMOLOG; PTCH; GENE;
D O I
10.3325/cmj.2015.56.63
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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>A).
引用
收藏
页码:63 / 67
页数:5
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