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Whole Exome Sequencing Reveals a Xpnpep3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient Publisher Pubmed



Alizadeh R1 ; Jamshidi S1 ; Keramatipour M2 ; Moeinian P1 ; Hosseini R3 ; Otukesh H4 ; Talebi S1
Authors
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Authors Affiliations
  1. 1. Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, Schools of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Pediatrics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  4. 4. Ali Asghar Children's Hospital, Tehran, Iran

Source: Iranian Biomedical Journal Published:2020


Abstract

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. © 2020, Pasteur Institute of Iran. All rights reserved.
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