Clinical features and genetic testing of a child with hepatic failure syndrome type 2 / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with infantile liver failure syndrome type 2 (ILFS type 2).@*METHODS@#Clinical features of the child were analyzed. Next generation sequencing was also carried out for him.@*RESULTS@#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.@*CONCLUSION@#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.