Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.
Acta Clin Belg
; 76(1): 16-24, 2021 Feb.
Article
em En
| MEDLINE
| ID: mdl-31402777
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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Proteínas do Citoesqueleto
/
Proteínas Adaptadoras de Transdução de Sinal
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Doenças Renais Císticas
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Variações do Número de Cópias de DNA
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article