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Article

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

Iranian biomedical journal - 1 Nov 2020

Alizadeh Rasoul, Jamshidi Sanaz, Keramatipour Mohammad, Moeinian Parisa, Hosseini Rozita, Otukesh Hasan, Talebi Saeed

Abstract excerpt

Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polydipsia and chronic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32660933
DOI: 10.29252/ibj.24.6.400
PMCID: PMC7601541

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