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

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 firstl...

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Published in:Acta clinica belgica (English ed. Online) 2021-02, Vol.76 (1), p.16-24
Main Authors: Abdelwahed, Mayssa, Maaloul, Ines, Benoit, Valerie, Hilbert, Pascale, Hachicha, Mongia, Kamoun, Hassen, Keskes-Ammar, Leila, Belguith, Neila
Format: Article
Language:English
Subjects:
Genetic counseling
Homozygote deletion
Juvenile nephronophthisis
MLPA
multiplex PCR
NPHP1
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Summary: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.
ISSN:1784-3286
2295-3337
DOI:10.1080/17843286.2019.1655231