Article
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
Genetic testing and molecular biomarkers - 1 Oct 2010
Fernandes Priscilla H, Wen Shu, Sutton Vernon Reid, Ward Patricia A, Van den Veyver Ignatia B, Fang Ping
Abstract excerpt
Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by mutations in the gene PORCN, which encodes a protein required for the secretion and signaling of Wnt proteins. While deletions are responsible for a small percentage of FDH-causing mutations, the vast majority of mutations are single-nucleotide substitutions or small deletions or insertions that can be identified by sequence analysis. In...
Topics
- Acyltransferases
- Chromosomes, Human, X
- Codon, Nonsense
- DNA Mutational Analysis
- Female
- Focal Dermal Hypoplasia
- Gene Duplication
- Genetic Heterogeneity
- Genetic Variation
- Genotype