PMID- 29498494
OWN - NLM
STAT- MEDLINE
DCOM- 20180504
LR  - 20201113
IS  - 1332-8166 (Electronic)
IS  - 0353-9504 (Print)
IS  - 0353-9504 (Linking)
VI  - 59
IP  - 1
DP  - 2018 Feb 28
TI  - Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome 
      patients: a case report of twins from Croatia.
PG  - 20-24
AB  - We describe a case of twins with sporadic Gorlin syndrome. Both twins had common 
      Gorlin syndrome features including calcification of the falx cerebri, multiple 
      jaw keratocysts, and multiple basal cell carcinomas, but with different 
      expressivity. One brother also had benign testicular mesothelioma. We propose 
      this tumor type as a possible new feature of Gorlin syndrome. Gorlin syndrome is 
      a rare autosomal dominant disorder characterized by both developmental 
      abnormalities and cancer predisposition, with variable expression of various 
      developmental abnormalities and different types of tumors. The syndrome is 
      primarily caused by mutations in the Patched 1 (PTCH1) gene, although rare 
      mutations of Patched 2 (PTCH2) or Suppressor of Fused (SUFU) genes have also been 
      found. Neither founder mutations nor hot spot locations have been described for 
      PTCH1 in Gorlin syndrome patients. Although de novo mutations of the PTCH1 gene 
      occur in almost 50% of Gorlin syndrome cases, there are a few recurrent 
      mutations. Our twin patients were carriers of a de novo mutation in the PTCH1 
      gene, c.3364_3365delAT (p.Met1122ValfsX22). This is, to our knowledge, the first 
      Gorlin syndrome-causing mutation that has been reported four independent times in 
      distant geographical locations. Therefore, we propose the location of the 
      described mutation as a potential hot spot for mutations in PTCH1.
FAU - Musani, Vesna
AU  - Musani V
AD  - Vesna Musani, Division of Molecular Medicine, Ruder Boskovic Institute, Bijenicka 
      54, 10000 Zagreb, Croatia, vmusani@irb.hr.
FAU - Ozretic, Petar
AU  - Ozretic P
FAU - Trnski, Diana
AU  - Trnski D
FAU - Sabol, Maja
AU  - Sabol M
FAU - Poduje, Sanja
AU  - Poduje S
FAU - Tosic, Mateja
AU  - Tosic M
FAU - Situm, Mirna
AU  - Situm M
FAU - Levanat, Sonja
AU  - Levanat S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Twin Study
PL  - Croatia
TA  - Croat Med J
JT  - Croatian medical journal
JID - 9424324
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched-1 Receptor)
SB  - IM
MH  - Adult
MH  - Basal Cell Nevus Syndrome/*genetics
MH  - Base Sequence
MH  - Diseases in Twins/*genetics
MH  - Genetic Linkage
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Patched-1 Receptor/*genetics
MH  - Polymorphism, Single Nucleotide
MH  - Skin Neoplasms/*genetics
MH  - Twins, Monozygotic/*genetics
PMC - PMC5833102
EDAT- 2018/03/03 06:00
MHDA- 2018/05/05 06:00
PMCR- 2018/02/01
CRDT- 2018/03/03 06:00
PHST- 2018/03/03 06:00 [entrez]
PHST- 2018/03/03 06:00 [pubmed]
PHST- 2018/05/05 06:00 [medline]
PHST- 2018/02/01 00:00 [pmc-release]
AID - CroatMedJ_59_0020 [pii]
AID - 10.3325/cmj.2018.59.20 [doi]
PST - ppublish
SO  - Croat Med J. 2018 Feb 28;59(1):20-24. doi: 10.3325/cmj.2018.59.20.