Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

ABSTRACT

Objective: Juvenile nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney. It represents the most frequent genetic cause of chronic renal failure in children.

Methods: we investigated clinical and molecular features in two children with Juvenile nephronophthisis using firstly Multiplex ligation-dependent probe amplification (MLPA) and secondly multiplex PCR.

Results: we report a homozygous NPHP1 deletion in two children.

Conclusion: NPHP1 deletion analysis using diagnostic methods (e.g. MLPA, Multiplex PCR) should always be considered in patients with nephronophthisis, especially from consanguineous families. Our results provide insights into genotype-phenotype correlations in juvenile nephronophthisis that can be utilized in genetic counseling.

KEYWORDS:

• Juvenile nephronophthisis
• NPHP1
• MLPA
• multiplex PCR
• Homozygote deletion

Acknowledgments

The authors thank Mr. Kamel Maaloul, translator and English language expert, for the valuable contribution with proofreading and polishing the manuscript.

Disclosure statement

No potential conflict of interest was reported by the authors.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in this study.