[Clinical features and genetic testing of a child with hepatic failure syndrome type 2]
Tao Jiang1, Wenxian Ouyang, Yanfang Tan
1Center of Hepatopathy, Hunan Children's Hospital, Changsha, Hunan 410007, China. lesjie62@vip.sina.com.
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.
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Assessment:


