Interestingly, the phenotype and age of disease onset of Patient A are radically different from the patients described by Devane I et al. i with the same mutation in the I TULP3 i gene Table 2. Very interestingly, Jafari Khamirani I et al. i reported a homozygous missense mutation in the I TULP3 i gene in consanguineous patients with a severe phenotype, which highlighted the potential importance of genetic background effects [[8]]. Reanalysis of previous negative ES based on expansion of the kidney panel with newly discovered gene-associated kidney disease or by applying improved bioinformatic pipelines has not been evaluated in kidney disease. [Extracted from the article]