Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.
J Eur Acad Dermatol Venereol
; 25(5): 592-5, 2011 May.
Article
em En
| MEDLINE
| ID: mdl-20626533
ABSTRACT
BACKGROUND:
Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear atrophic skin defects, skeletal deformities and, in many cases, mental retardation. Osteopathia striata is a nearly constant feature. Approximately 90% of patients are women. A few instances of father-to-daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded.OBJECTIVES:
The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient.METHODS:
We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH.RESULTS:
We demonstrate post-zygotic mosaicism for a novel deletion in the PORCN gene.CONCLUSIONS:
A novel PORCN deletion, present in a post-zygotic mosaic, causes focal dermal hyplasia in a male patient.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hipoplasia Dérmica Focal
/
Deleção de Sequência
/
Proteínas de Membrana
/
Mosaicismo
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article