Ostalo
https://doi.org/10.3325/cmj.2018.59.20
Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia
Vesna Musani
orcid.org/0000-0001-9927-3727
; Laboratory for Hereditary Cancer, Ruđer Bošković Institute, Zagreb, Croatia
Petar Ozretić
orcid.org/0000-0001-9757-6636
; Laboratory for Hereditary Cancer, Ruđer Bošković Institute, Zagreb, Croatia
Diana Trnski
; Laboratory for Hereditary Cancer, Ruđer Bošković Institute, Zagreb, Croatia
Maja Sabol
orcid.org/0000-0001-6968-2327
; Laboratory for Hereditary Cancer, Ruđer Bošković Institute, Zagreb, Croatia
Sanja Poduje
; University Department of Dermatovenereology, UniversityHospital “Sestre milosrdnice”,Zagreb, Croatia
Mateja Tošić
; Clinic of Dermatovenereology Sniježana Nakić Tošić, Makarska, Croatia
Mirna Šitum
; University Department of Dermatovenereology, UniversityHospital “Sestre milosrdnice”,Zagreb, Croatia
Sonja Levanat
; Laboratory for Hereditary Cancer, Ruđer Bošković Institute, Zagreb, Croatia
Sažetak
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.
Ključne riječi
Hrčak ID:
200239
URI
Datum izdavanja:
28.2.2018.
Posjeta: 1.186 *