De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype

Wicking, C, Gillies, S, Smyth, I, Shanley, S, Fowles, L, Ratcliffe, J, Wainwright, B and ChenevixTrench, G (1997) De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. American Journal of Medical Genetics Part A, 73 3: 304-307. doi:10.1002/(SICI)1096-8628(19971219)73:3<304::AID-AJMG14>3.0.CO;2-N


Author Wicking, C
Gillies, S
Smyth, I
Shanley, S
Fowles, L
Ratcliffe, J
Wainwright, B
ChenevixTrench, G
Title De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype
Journal name American Journal of Medical Genetics Part A   Check publisher's open access policy
ISSN 1552-4825
Publication date 1997-01-01
Sub-type Article (original research)
DOI 10.1002/(SICI)1096-8628(19971219)73:3<304::AID-AJMG14>3.0.CO;2-N
Volume 73
Issue 3
Start page 304
End page 307
Total pages 4
Place of publication New York
Publisher Wiley-Liss
Language eng
Subject 06 Biological Sciences
Abstract The demonstration that mutations in the Patched (PTCH) gene cause nevoid basal cell carcinoma syndrome (NBCCS) has led to the identification of the exact molecular lesion in a percentage of individuals with the syndrome, In addition, it has been possible to determine, through molecular analysis of parents and other relatives of these individuals, if the mutation is inherited or has arisen de novo, We have previously reported 28 mutations in individuals with NBCCS, and here we present an additional 4 novel mutations, We have also analyzed relatives of a number of the individuals in whom we have found mutations, In total we have identified 8 individuals who carry a de novo mutation in the PTCH gene, In 5 of these cases, clinical and radiological examination had not unequivocally ruled out a diagnosis in one of the parents, This helps to define the clinical phenotype and suggests that diagnostic criteria in this complex syndrome may require review. (C) 1997 Wiley-Liss, Inc.
Keyword Genetics & Heredity
Nevoid Basal Cell Carcinoma Syndrome
Patched Gene
De Novo Mutations
Diagnostic Criteria
Human Homolog
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Tue, 14 Aug 2007, 03:02:46 EST