PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

Abstract Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms and is diagnosed with 2 major criteria, or with 1 major and 2 minor criteria. Here, we report a new clinical manifestation associated with this syndrome in a boy affected by NBCCS who had congenital orbital teratoma at birth. Later, at the age of 15 years, he presented with 4 major and 4 minor criteria of NBCCS, including multiple basal cell carcinoma and 2 odontogenic keratocysts of the jaw, both confirmed by histology, more than 5 palmar pits, calcification of the cerebral falx, extensive meningeal calcifications, macrocephaly, hypertelorism, frontal bosses, and kyphoscoliosis. PTCH1 mutation analysis revealed the heterozygous germline mutation c.290dupA. This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of function. Identification of this mutation is useful for genetic counseling. Although the clinical symptoms are well-known, our case contributes to the understanding of phenotypic variability in NBCCS, highlighting that PTCH1 mutations cannot be used for predicting disease burden and reinforces the need of a multidisciplinary team in the diagnosis, treatment, and follow-up of NBCCS patients.
PMID
Related Publications

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years.

Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma.

Authors

Mayor MeshTerms

Frameshift Mutation

Keywords
Journal Title genetics and molecular research : gmr
Publication Year Start




PMID- 25117323
OWN - NLM
STAT- MEDLINE
DCOM- 20150423
LR  - 20161125
IS  - 1676-5680 (Electronic)
IS  - 1676-5680 (Linking)
VI  - 13
IP  - 3
DP  - 2014 Jul 25
TI  - Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital 
      teratoma, caused by a PTCH1 frameshift mutation.
PG  - 5654-63
LID - 10.4238/2014.July.25.21 [doi]
AB  - Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare
      autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a
      high level of penetrance and variable expressivity. The syndrome is characterized
      by developmental abnormalities or neoplasms and is diagnosed with 2 major
      criteria, or with 1 major and 2 minor criteria. Here, we report a new clinical
      manifestation associated with this syndrome in a boy affected by NBCCS who had
      congenital orbital teratoma at birth. Later, at the age of 15 years, he presented
      with 4 major and 4 minor criteria of NBCCS, including multiple basal cell
      carcinoma and 2 odontogenic keratocysts of the jaw, both confirmed by histology, 
      more than 5 palmar pits, calcification of the cerebral falx, extensive meningeal 
      calcifications, macrocephaly, hypertelorism, frontal bosses, and kyphoscoliosis. 
      PTCH1 mutation analysis revealed the heterozygous germline mutation c.290dupA.
      This mutation generated a frameshift within exon 2 and an early premature stop
      codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of
      function. Identification of this mutation is useful for genetic counseling.
      Although the clinical symptoms are well-known, our case contributes to the
      understanding of phenotypic variability in NBCCS, highlighting that PTCH1
      mutations cannot be used for predicting disease burden and reinforces the need of
      a multidisciplinary team in the diagnosis, treatment, and follow-up of NBCCS
      patients.
FAU - Rodrigues, A L
AU  - Rodrigues AL
AD  - Servico de Pediatria, Hospital do Divino Espirito Santo de Ponta Delgada, EPE,
      Acores, Portugal.
FAU - Carvalho, A
AU  - Carvalho A
AD  - Servico de Pediatria, Hospital do Divino Espirito Santo de Ponta Delgada, EPE,
      Acores, Portugal.
FAU - Cabral, R
AU  - Cabral R
AD  - Unidade de Genetica e Patologia Moleculares, Hospital do Divino Espirito Santo de
      Ponta Delgada, EPE, Acores, Portugal.
FAU - Carneiro, V
AU  - Carneiro V
AD  - Servico de Anatomia Patalogica, Hospital do Divino Espirito Santo de Ponta
      Delgada, EPE, Acores, Portugal.
FAU - Gilardi, P
AU  - Gilardi P
AD  - LabGenetics, Laboratorio de Genetica Clinica S.L. San Sebastian de los Reyes,
      Madrid, Spain.
FAU - Duarte, C P
AU  - Duarte CP
AD  - Servico de Pediatria, Hospital do Divino Espirito Santo de Ponta Delgada, EPE,
      Acores, Portugal.
FAU - Puente-Prieto, J
AU  - Puente-Prieto J
AD  - LabGenetics, Laboratorio de Genetica Clinica S.L. San Sebastian de los Reyes,
      Madrid, Spain.
FAU - Santos, P
AU  - Santos P
AD  - Servico de Dermatologia, Hospital do Divino Espirito Santo de Ponta Delgada, EPE,
      Acores, Portugal.
FAU - Mota-Vieira, L
AU  - Mota-Vieira L
AD  - Unidade de Genetica e Patologia Moleculares, Hospital do Divino Espirito Santo de
      Ponta Delgada, EPE, Acores, Portugal [email protected]
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20140725
PL  - Brazil
TA  - Genet Mol Res
JT  - Genetics and molecular research : GMR
JID - 101169387
RN  - 0 (PTCH protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Receptors, Cell Surface)
RN  - Basal cell carcinoma, multiple
SB  - IM
MH  - Adolescent
MH  - Basal Cell Nevus Syndrome/*complications/diagnosis/*genetics
MH  - Brain/pathology
MH  - Carcinoma, Basal Cell/*complications/diagnosis/*genetics
MH  - DNA Mutational Analysis
MH  - *Frameshift Mutation
MH  - Germ-Line Mutation
MH  - Hamartoma Syndrome, Multiple/*complications/diagnosis/*genetics
MH  - Humans
MH  - Male
MH  - Orbital Neoplasms/congenital/diagnosis/*etiology
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Radiography, Panoramic
MH  - Receptors, Cell Surface/*genetics
MH  - Teratoma/congenital/diagnosis/*etiology
MH  - Tomography, X-Ray Computed
EDAT- 2014/08/15 06:00
MHDA- 2015/04/24 06:00
CRDT- 2014/08/14 06:00
PHST- 2014/08/14 06:00 [entrez]
PHST- 2014/08/15 06:00 [pubmed]
PHST- 2015/04/24 06:00 [medline]
AID - gmr4387 [pii]
AID - 10.4238/2014.July.25.21 [doi]
PST - epublish
SO  - Genet Mol Res. 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21.