Session # 96

Identification and evaluation of rare, Congenital Central Hypoventilation Syndrome (CCHS)-causing PHOX2B non-polyalanine repeat expansion mutations (NPARMs) and associated phenotypes. 

CCHS is a rare neurocristopathy caused by mutations in PHOX2B, a key gene in early embryologic development of the autonomic nervous system. While 90% of CCHS-causing mutations are in-frame polyalanine repeat expansion mutations (PARMs), the remaining 10% are non-PARMs (NPARMs). A clear genotype-phenotype relationship for PARMs has been established, allowing anticipatory management including artificial respiratory needs and risk assessment for Hirschsprung disease, cardiac sinus pauses, and neural crest tumors. However, the variability and rarity of NPARMs (<100 reported cases) have precluded such advances for these CCHS cases. This study represents a unique collaboration between commercial and academic laboratories to expand knowledge on NPARMs and associated phenotypes

• Authors: Amy Zhou; Patrick Reineke; Christy Moore; Casey M. Rand; Virginia Speare; Elizabeth M. Berry-Kravis; Lili Zhou; Min Yu; Lawrence J. Jennings; Debra E. Weese-Mayer
• Conference: AAS
• Date: Wednesday, Nov 02, 2016 8:00pm - 9:00pm