Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. Issue 1 (2nd January 2021)

• Record Type: Journal Article
• Authors: Abdelwahed, Mayssa; Maaloul, Ines; Benoit, Valerie; Hilbert, Pascale; Hachicha, Mongia; Kamoun, Hassen; Keskes-Ammar, Leila; Belguith, Neila
• Is Part Of: Acta clinica belgica. Volume 76:Issue 1(2021)
• Page Start: 16
• Page End: 24
• Publication Date: 2021-01-02
• Subjects: Juvenile nephronophthisis -- NPHP1 -- MLPA -- multiplex PCR -- Homozygote deletion; Clinical medicine -- Periodicals; Diagnosis, Laboratory -- Periodicals; 616.005
• DOI: 10.1080/17843286.2019.1655231
• Languages: English
• ISSNs: 1784-3286

Abstract

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.