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      A Case of Male Goltz Syndrome

      case-report
      Author(s): , * ,
      Publication date (Electronic):
      Journal: Case Reports in Pediatrics
      Publisher: Hindawi Publishing Corporation

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          Abstract

          We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.

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          Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

          Mauro Paradisi, Rudolf Happle, Barbara Fritz … (2007)
          Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.
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            Focal dermal hypoplasia syndrome. An update.

            R GOLTZ (1992)
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              Mutation update for the PORCN gene.

              Robert Śmigiel, Lillian Bomme Ousager, Michael Gabbett … (2011)
              Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web-based locus-specific database that lists all identified variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software, and is accessible online at http://www.lovd.nl/porcn. At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients. © 2011 Wiley-Liss, Inc.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Case Rep Pediatr
                Journal ID (iso-abbrev): Case Rep Pediatr
                Journal ID (publisher-id): CRIM.PEDIATRICS
                Title: Case Reports in Pediatrics
                Publisher: Hindawi Publishing Corporation
                ISSN (Print): 2090-6803
                ISSN (Electronic): 2090-6811
                Publication date (Print): 2012
                Publication date (Electronic): 18 October 2012
                Volume: 2012
                Electronic Location Identifier: 728509
                Affiliations
                Pediatric Medicicne, Calcutta National Medical College and Hospital, Kolkata, India
                Author notes

                Academic Editors: N. Arslan and P. Weisleder

                Article
                DOI: 10.1155/2012/728509
                PMC ID: 3483685
                PubMed ID: 23119212
                SO-VID: 812899c7-9b34-4930-9189-8ba631a37a66
                Copyright © Copyright © 2012 Bhaswati Ghoshal et al.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 24 June 2012
                Date accepted : 25 September 2012
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Pediatrics
                Data availability:
                ScienceOpen disciplines: Pediatrics

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