Pérez-Solís David, Montes-Zapico Bárbara, Rodríguez-Dehli Ana-Cristina, García-Hoyos María, Arroyo-Hernández Mireia
Department of Pediatrics, San Agustín University Hospital, Avilés, Spain.
Department of Medical Genetics, The National Institute of Genomic Medicine, S.L. Paterna, Spain.
J Pediatr Genet. 2020 Jul 29;10(4):323-325. doi: 10.1055/s-0040-1714361. eCollection 2021 Dec.
In this article, we reported a patient with Crigler-Najjar syndrome type II with high-unconjugated bilirubin levels that decreased after phenobarbital treatment. The patient had two novel missense mutations in the gene and a promoter variant in one allele. One mutation was c.1001T > C, that predicted leucine to proline substitution at position 334 (p.Leu334Pro). The other, c.1139A > G, predicted glutamic acid to glycine replacement at position 380 (p.Glu380Gly). In silico analysis indicated that both mutations are likely pathogenic.
在本文中，我们报告了一名患有II型克里格勒 - 纳贾尔综合征的患者，其未结合胆红素水平较高，在苯巴比妥治疗后降低。该患者在该基因中有两个新的错义突变，且一个等位基因中有一个启动子变体。一个突变是c.1001T>C，预测在第334位由亮氨酸替代为脯氨酸（p.Leu334Pro）。另一个是c.1139A>G，预测在第380位由谷氨酸替代为甘氨酸（p.Glu380Gly）。计算机分析表明这两个突变可能具有致病性。
