Whole-exome sequencing for TANGO2 deficiency disorder

李志明(Zhiming Li)

doi:10.26036/cnp0009917

July 30, 2026Open Access

Whole-exome sequencing for TANGO2 deficiency disorder

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Key Points

This research aims to identify genetic mutations responsible for TANGO2 deficiency disorder using whole-exome sequencing.
Conducted whole-exome sequencing on the proband to identify genetic variants.
Analyzed the gene TANGO2 for mutations and deletions.
Identified a compound heterozygote status with specific mutations in the TANGO2 gene.
Identified a c.672C>A (p.Y224) mutation in the TANGO2 gene.
Detected an exon 5-6 deletion (c.266_451del (p.E89Tfs*124)) associated with the disorder.

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Implication

Demonstrates genetic mutations in TANGO2, implicating new diagnostics for deficiency disorders.

Abstract

Whole-exome sequencing revealed that the proband was a compound heterozygote with c.672C>A (p.Y224*) and an exon 5-6 deletion (c.266_451del (p.E89Tfs*124) in the TANGO2 gene

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Cite This Study

李志明(Zhiming Li) (2026) studied this question.

synapsesocial.com/papers/6a6c4748747664a1aa73c71a https://doi.org/10.26036/cnp0009917

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Whole-exome sequencing for TANGO2 deficiency disorder

Key Points

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Implication

Abstract

Discussion

Cite This Study

Whole-exome sequencing for TANGO2 deficiency disorder

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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