Clinical features and genetic testing of a child with hepatic failure syndrome type 2

Abstract

To explore the genetic basis for a child with infantile liver failure syndrome type 2 (ILFS type 2). Clinical features of the child were analyzed. Next generation sequencing was also carried out for him. The child was found to harbor compound heterozygous variants of the NBAS gene, which included a novel nonsense c.2746A>T (p.R916X, 1456) variant in exon 24 and a missense c.3596G>A (p.C1199Y) mutation in exon 31, which has been associated with ILFS type 2. The two variants were respectively inherited from his father and mother. The compound heterozygous variants of c.3596G>A and c.2746A>T of the NBAS gene probably underlay the ILFS type 2 in this child.