Objective To determine the genetic etiology for four child patients with very long-chain acyl-CoA dehy-drogenase deficiency(VLCADD)via whole-exome sequencing(WES).Method The genomic DNA was extracted from the peripheral blood of 4 unrelated VLCADD families.The WES identified pathogenic variants were verified via Sanger sequencing,and their parental origins were confirmed.In Silico analysis were conducted using ioinformatics software.Result Combined with whole-exome sequencing and Sanger sequencing,six ACADVL variants were identified in 4 VLCADD probands.In each pro-band,the variants were inherited from both parents,which was consistent with autosomal recessive inheritance.Four of the variants,c.226_227insGAAT,c.621_622del,c.151A＞T,c.1194C＞G,were first reported,and were consistent with the pro-bands'neonatal tandem mass spectrometry screening results and(or)clinical symptoms.Conclusion Our finding enriched the VLCADD gene mutation spectrum,and provided basis for clinical screening and diagnosis of VLCADD.
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