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Background: 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. XPNPEP3 mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polydipsia and chronic kidney disease who was clinical suspected of NPHP. After collection of blood sample from proband and her parents, WES was performed to identify the possible variants in a proband from a consanguineous marriage. The functional importance of variants was estimated by bioinformatic analysis. In the affected proband and her parents, Sanger sequencing was conducted for variants’ confirmation and segregation analysis. Results: Clinical and paraclinical investigations of the patient was not informative. By using WES, we, herein, a novel homozygous frameshift mutation in XPNPEP3 was detected (NM_022098.2: c.719_720insA; p. Q241Tfs*13) and Sanger sequencing demonstrated an insertion in XPNPEP3. Conclusion: The homozygous genotype of the novel p.Q241Tfs*31 variant in XPNPEP3 may cause NPHP in the early childhood age.
Type of Study: Case Report | Subject: Molecular Genetics & Genomics

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