Phenotype Spectrum in Tunisian Population with NPHP1 Deletion.

ABSTRACT:

Introduction

Nephronophthisis (NPHP) is a tubulointerstitial kidney disorder with an autosomal recessive inheritance pattern. Its genetic heterogeneity contributes to phenotype variability. The most frequent etiology of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. This study aimed to evaluate the genotype-phenotype correlation in NPHP1 gene mutation.

Methods

A multicenter retrospective study was performed over 20 years from 1998 to 2018 to describe the clinical, biological, and radiological features associated with the large deletion NPHP1 gene in 32 patients.

Results

The incidence of NPHP1 was 1.6/204041. Eighty-one percent of our patients were born out of consanguineous marriages. The mean age at diagnosis

SUBMITTER: Hammi Y 

PROVIDER: S-EPMC10752411 | biostudies-literature | 2023 Nov-Dec

REPOSITORIES: biostudies-literature