A reply to the letter entitled “Underestimation of the contribution of 211 G to A variation of UGT1A1 to neonatal hyperbilirubinemia in China”

The c.211G>A (p.G71R) variant is one of the most common polymorphisms in UGT1A1 and has been reported as a risk factor for neonatal hyperbilirubinemia, and might reduce its enzymatic activity.1-5 Our study is part of the China Neonatal Genomes Project (CNGP),6-8 focused on exploring the proportion and the spectrum of diagnostic genetic disorders in neonatal hyperbilirubinemia. We did not annotate c.211G>A in UGT1A1 as a diagnostic pathogenic variant in neonatal hyperbilirubinemia. In 2010, we conducted a meta-analysis to evaluate the association between UGT1A1 gene polymorphisms and neonatal hyperbilirubinemia.

source https://www.jpeds.com/article/S0022-3476(22)00285-2/fulltext?rss=yes