Publication Date

4-27-2019

Files

Download

Download Full Text (1.1 MB)

Abstract

Severe kernicterus spectrum disorder (KSD) is described as motor and auditory deficits resulting from brain damage caused by hyperbilirubinemia. The severity of HB does not always predict the severity of injury. The lack of a strong monogenetic link to susceptibility suggests bilirubin-induced brain damage may be due to impaired bilirubin response pathways. This poster describes work to use a modified pathway genetic load (mPGL) score method to perform a targeted genetic analysis of whole exome data from patients with various degrees of neonatal HB, with an ultimate goal of developing a neonatal screen to susceptibiltiy to bilirubin neurotoxicity.

MeSH Keywords

Genetic Load; Neurotoxicity Syndromes; Hyperbilirubinemia, Neonatal/genetics; Kernicterus

Keywords

mPGL score; modified pathway genetic load score; kernicterus spectrum disorder; bilirubin neurotoxicity

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Genetics | Neurology | Pediatrics

Notes

Presented at the Pediatric Academic Societies Meeting in Baltimore, Maryland, April 27, 2019.

Weighted Pathway Genetic Load Analysis of Hyperbilirubinemic Infants Indicates a Potential Genetic Component for Susceptibility to Bilirubin Neurotoxicity

Share

COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.