Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report - Takeaways - 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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  • 1

    Nephronophthisis (NPHP) is an autosomal recessive kidney disorder leading to end-stage renal disease, primarily affecting children.

  • 2

    A Chinese patient with NPHP was found to have a compound heterozygous mutation in the NPHP4 gene through whole exome sequencing.

  • 3

    The identified mutations, p.R871X and p.R923H, were classified as pathogenic and likely pathogenic, respectively, according to genetic guidelines.

  • 4

    Clinical features of the patient included edema, proteinuria, and renal dysfunction, consistent with typical NPHP symptoms.

  • 5

    The study highlights the importance of genetic testing for accurate diagnosis of nephronophthisis in pediatric patients.

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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