E697X,37 and a novel homozygous missense mutation, p. F691?L, in the NPHP1 gene. His parents and fraternal twin harbored heterozygous mutations of the two loci and had no renal symptoms. His elder sister developed ESRD and died at 23?years of age. The report indicated that adult NPHP...
The deletion occurred on both chromosomes 2q13 in one patient and heterozygously in combination with a point mutation of the NPHP1 gene in the other. The findings will help to elucidate the pathogenetic processes involved.Access through your organization Check access to the full text by signing ...
analyzed gene mutation and clinical manifestations of NPHP in Chinese population by using WES, and found the causative genetic variations in these patients [16]. Also, targeted exome sequencing (TES) was used to detect the causative mutation of NPHP patients. For example, TES based on 63 ...
8, 9 Moreover, a dosage-sensitive interaction between Nphp1 and Ahi1, for which the human ortholog is responsible for approximately 10% of JBTS,10 has also been shown in rodent models; mice deficient for both proteins have a more severe retinal phenotype than do the single-gene knockouts....
Nevertheless, a deletion analysis of the NPHP1 gene on chromosome 2 was performed and showed a homozygous deletion. Analysis of the family pedigree indicated no obvious consanguinity in the last three generations. However, haplotype analysis demons 展开 ...
The most frequent cause of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. NPHP1 encodes the protein nephrocystin which functions at the transition zone (TZ) of primary cilia. Methods We report a 9﹜ear﹐ld Senior–Loken syndrome boy with NPHP1 deletion,...
The deletion of its major gene, NPHP1, with a minor allele frequency of 0.24% in the general population, is the most common mutation leading to a monogenic form of childhood chronic renal failure. It is challenging to detect it in the heterozygous state. We aimed to evaluate the sensitivity...
nephronophthisispolycystic kidney diseaseKey Clinical Message We report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease ...
We therefore undertook a nationwide survey of JBS in the Netherlands and performed DNA analysis of the AHI1 and NPHP1 genes, as well as a new candidate gene CYCLIN D1. We obtained clinical data and DNA samples of 25 Dutch JBS patients. DNA analysis of AHI1 revealed pathogenic homozygous ...
The deletion occurred on both chromosomes 2q13 in one patient and heterozygously in combination with a point mutation of the NPHP1 gene in the other. The findings will help to elucidate the pathogenetic processes involved.Access through your organization Check access to the full text by signing ...