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2022•PubMedRequires access

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

Xiaowei Xu, Dandan Yan, Jing Yin, Jie Zheng, Xuetao Wang, Jianbo Shu

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Abstract

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.

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What this paper is about

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.

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Available abstract

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.

Key concepts: Sanger sequencing, Proband, Exon, Genetics, Compound heterozygosity, Exome sequencing, Gene, Copy-number variation

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[Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene]. — Research Paper | ScholarLens