[Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene].

OBJECTIVE

To explore the genetic etiology of a child with severe combined immunodeficiency (SCID).

METHODS

Whole exome sequencing (WES) and copy number variation (CNV) analysis were carried out to screen potential variants in the proband. Suspected variants were validated by Sanger sequencing and qPCR.

RESULTS

WES showed that the proband harbored compound heterozygous variants of the DCLRE1C gene, namely deletion of exons 1-3 and c.322G>A (p.Val108Met) in exon 5. The exon 1-3 deletion was derived from his father and was known to be pathogenic, while the c.322G>A was derived from his mother and was unreported previously.

CONCLUSION

The compound heterozygous variants of the DCLRE1C gene probably underlay the SCID in this child.