Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis. This report serves to further clarify the phenotype of Goltz syndrome and suggests that expression in males varies.

Detalles Bibliográficos
Autores principales: Frisk, Sofia, Grandpeix‐Guyodo, Catherine, Popovic Silwerfeldt, Karin, Hjartarson, Helgi Thor, Chatzianastassiou, Dimitris, Magnusson, Irina, Laurell, Tobias, Nordgren, Ann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230642/
https://www.ncbi.nlm.nih.gov/pubmed/30455901
http://dx.doi.org/10.1002/ccr3.1783
_version_ 1783370117897256960
author Frisk, Sofia
Grandpeix‐Guyodo, Catherine
Popovic Silwerfeldt, Karin
Hjartarson, Helgi Thor
Chatzianastassiou, Dimitris
Magnusson, Irina
Laurell, Tobias
Nordgren, Ann
author_facet Frisk, Sofia
Grandpeix‐Guyodo, Catherine
Popovic Silwerfeldt, Karin
Hjartarson, Helgi Thor
Chatzianastassiou, Dimitris
Magnusson, Irina
Laurell, Tobias
Nordgren, Ann
author_sort Frisk, Sofia
collection PubMed
description Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis. This report serves to further clarify the phenotype of Goltz syndrome and suggests that expression in males varies.
format Online
Article
Text
id pubmed-6230642
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-62306422018-11-19 Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature Frisk, Sofia Grandpeix‐Guyodo, Catherine Popovic Silwerfeldt, Karin Hjartarson, Helgi Thor Chatzianastassiou, Dimitris Magnusson, Irina Laurell, Tobias Nordgren, Ann Clin Case Rep Case Reports Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis. This report serves to further clarify the phenotype of Goltz syndrome and suggests that expression in males varies. John Wiley and Sons Inc. 2018-09-21 /pmc/articles/PMC6230642/ /pubmed/30455901 http://dx.doi.org/10.1002/ccr3.1783 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Frisk, Sofia
Grandpeix‐Guyodo, Catherine
Popovic Silwerfeldt, Karin
Hjartarson, Helgi Thor
Chatzianastassiou, Dimitris
Magnusson, Irina
Laurell, Tobias
Nordgren, Ann
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
title Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
title_full Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
title_fullStr Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
title_full_unstemmed Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
title_short Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
title_sort goltz syndrome in males: a clinical report of a male patient carrying a novel porcn variant and a review of the literature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230642/
https://www.ncbi.nlm.nih.gov/pubmed/30455901
http://dx.doi.org/10.1002/ccr3.1783
work_keys_str_mv AT frisksofia goltzsyndromeinmalesaclinicalreportofamalepatientcarryinganovelporcnvariantandareviewoftheliterature
AT grandpeixguyodocatherine goltzsyndromeinmalesaclinicalreportofamalepatientcarryinganovelporcnvariantandareviewoftheliterature
AT popovicsilwerfeldtkarin goltzsyndromeinmalesaclinicalreportofamalepatientcarryinganovelporcnvariantandareviewoftheliterature
AT hjartarsonhelgithor goltzsyndromeinmalesaclinicalreportofamalepatientcarryinganovelporcnvariantandareviewoftheliterature
AT chatzianastassioudimitris goltzsyndromeinmalesaclinicalreportofamalepatientcarryinganovelporcnvariantandareviewoftheliterature
AT magnussonirina goltzsyndromeinmalesaclinicalreportofamalepatientcarryinganovelporcnvariantandareviewoftheliterature
AT laurelltobias goltzsyndromeinmalesaclinicalreportofamalepatientcarryinganovelporcnvariantandareviewoftheliterature
AT nordgrenann goltzsyndromeinmalesaclinicalreportofamalepatientcarryinganovelporcnvariantandareviewoftheliterature

Ejemplares similares