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      Genetic mutations in Gorlin-Goltz syndrome

      case-report

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          Abstract

          Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.

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          PTCH mutations: distribution and analyses.

          Rune Toftgård, Takashi Shimokawa, E Lindström … (2006)
          Mutations in the PTCH (PTCH1) gene are the underlying cause of nevoid basal cell carcinoma syndrome (NBCCS), and are also found in many different sporadic tumors in which PTCH is thought to act as a tumor suppressor gene. To investigate the distribution pattern of these mutations in tumors and NBCCS, we analyzed 284 mutations and 48 SNPs located in the PTCH gene that were compiled from our PTCH mutation database. We found that the PTCH mutations were mainly clustered into the predicted two large extracellular loops and the large intracellular loop. The SNPs appeared to be clustered around the sterol sensing domain and the second half of the protein. The NBCCS cases and each class of tumor analyzed revealed a different distribution of the mutations in the various PTCH domains. Moreover, the types of mutations were also unique for the different groups. Finally, the PTCH gene harbors mutational hot spot residues and regions, including a slippage-sensitive sequence in the N-terminus. 2006 Wiley-Liss, Inc.
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            Nevoid basal cell carcinoma syndrome: a review of the literature.

            M Manfredi, M Bonanini, P. Vescovi … (2004)
            The nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin-Goltz Syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The present report reviews current knowledge of this disorder that has profound relevance to specialists in Oral and Maxillo-Facial Surgery, Oral Medicine and Radiology.
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              Nevoid basal cell carcinoma syndrome.

              R Gorlin (1994)
              Nevoid basal cell carcinoma syndrome has as its hallmarks such diverse manifestations as numerous cutaneous basal cell cancers and epidermal cysts, palmar and plantar pits, keratocysts of the jaw, calcified dural folds, various skeletal anomalies, cleft lip and/or palate, and various other neoplasms or hamartomas. Inheritance is autosomal dominant. The etiology of all of the above findings appears to be a mutation in a tumor suppressor gene that also plays a role in normal embryonic development.
              Article 0 comments Cited 31 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Indian J Hum Genet
                Journal ID (iso-abbrev): Indian J Hum Genet
                Journal ID (publisher-id): IJHG
                Title: Indian Journal of Human Genetics
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0971-6866
                ISSN (Electronic): 1998-362X
                Publication date (Print): Jul-Sep 2013
                Volume: 19
                Issue: 3
                Pages: 369-372
                Affiliations
                [1]Department of Pedodontics, Mamatha Dental College, Khammam, Andhra Pradesh, India
                [1 ]Department of Endodontics, Panineeya Mahavidyalaya Institute of Dental Sciences, Hyderabad, Andhra Pradesh, India
                Author notes
                Address for correspondence: Dr. M. Daneswari, Reader, Department of Pedodontics, Mamatha Dental College, Khammam, Andhra Pradesh, India. E-mail: dranjana4477@ 123456rediffmail.com
                Article
                Publisher ID: IJHG-19-369
                DOI: 10.4103/0971-6866.120810
                PMC ID: 3841570
                PubMed ID: 24339558
                SO-VID: a8193866-1ce7-4547-81e0-33b8852f64fd
                Copyright © Copyright: © Indian Journal of Human Genetics
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Genetics
                Keywords: nevoid basal cell carcinoma,odontogenic keratocyst,gorlin-goltz syndrome,palmar plantar pits
                Data availability:
                ScienceOpen disciplines: Genetics
                Keywords: nevoid basal cell carcinoma, odontogenic keratocyst, gorlin-goltz syndrome, palmar plantar pits

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