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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.
Genetic Load; Neurotoxicity Syndromes; Hyperbilirubinemia, Neonatal/genetics; Kernicterus
mPGL score; modified pathway genetic load score; kernicterus spectrum disorder; bilirubin neurotoxicity
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Genetics | Neurology | Pediatrics
Riordan, Sean M.; LePichon, Jean-Baptiste; Shapiro, Steven; Cowden, John; VillaGullen, Monica; Thielemans, Laurence; Villanueva Garcia, Dina; and Aguirre-Hernandez, Jesus, "Weighted Pathway Genetic Load Analysis of Hyperbilirubinemic Infants Indicates a Potential Genetic Component for Susceptibility to Bilirubin Neurotoxicity" (2019). Posters. 82.