Article
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.
Journal of the peripheral nervous system : JPNS - 1 Sept 2018
Marchi Margherita, Provitera Vincenzo, Nolano Maria, Romano Marcello, Maccora Simona, D'Amato Ilaria, Salvi Erika, Gerrits Monique, Santoro Lucio, Lauria Giuseppe
Abstract excerpt
Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder presenting with a spectrum of clinical features caused by mutations in different genes. A 10-year-old girl with CIP, hyposmia and hypogeusia, and her unaffected twin and parents underwent next generation sequencing of SCN9A exons and flanking splice sites. Transcript analysis from whole blood successfully assayed the effect of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.