UGT1A1-related Bilirubin Encephalopathy/Kernicterus in Adults.

ABSTRACT:

Background and aims

Bilirubin encephalopathy/kernicterus is very rare in adults. This study is aimed to investigate the clinical manifestations and genetic features of two patients with UGT1A1-related kernicterus.

Methods

Sanger sequencing analysis was performed to identify UGT1A1 gene mutations in the patients and their families. Bioinformatics analysis was used to predict the potential functional effects of novel missense mutations. Clinical manifestations and biochemical parameters were collected and analyzed.

Results

Two patients with Crigler-Najjar syndrome type II (CNS2) developed kernicterus in adulthood. Sanger sequencing identified a compound heterozygous mutation in the UGT1A1 gene in patient 1, which was inherited from his mother (G71R)

SUBMITTER: Bai J 

PROVIDER: S-EPMC8111108 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature