Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant

Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the firs...

Descripción completa

Detalles Bibliográficos
Autores principales: Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
E-IJD Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122302/
https://www.ncbi.nlm.nih.gov/pubmed/27904205
http://dx.doi.org/10.4103/0019-5154.193712
Descripción
Sumario:Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.

Ejemplares similares