Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report - Summary - MDSpire

Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report

  • By

  • Wang Li

  • Gao-Hui Cao

  • Nan-Nan Li

  • Jie-Yi Long

  • You-Qing Tang

  • Ji-Shi Liu

  • Liang-Liang Fan

  • July 7, 2026

  • 0 min

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Objective:

To identify genetic mutations associated with nephronophthisis (NPHP) in a pediatric patient using whole exome sequencing.

Approach:
  • Genetic Testing: Whole exome sequencing and Sanger sequencing were employed to identify mutations in the NPHP4 gene.
Key Findings:
  • A rare compound heterozygous mutation in the NPHP4 gene was identified: c.2611C > T/p.R871X and c.2768G > A/p.R923H, confirmed by Sanger sequencing.
  • The p.R871X variant was classified as pathogenic, and the p.R923H variant was classified as likely pathogenic according to ACMG guidelines.
  • Both mutations have not been previously reported in patients with NPHP.
Interpretation:

Limitations:
  • The study is based on a single pediatric case, limiting the generalizability of the findings.
  • Further studies are needed to understand the full clinical implications of the identified mutations.
Conclusion:

Original Source(s)

Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report

  • by Wang Li, Gao-Hui Cao, Nan-Nan Li, Jie-Yi Long, You-Qing Tang, Ji-Shi Liu, Liang-Liang Fan

  • July 7, 2026

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