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Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4 (show NPHP4 Proteins) cause unusually severe form of infantile nephronophthisis.
NPHP3 mutations were prevalent in Chinese infantile nephronophthisis patients. All patients with NPHP3 mutations showed renal-hepatic phenotype.
a rare neonatal ciliopathy presentation of NPHP3 mutations leading to severe multiorgan failure in two siblings.
The known phenotype of NPHP3 mutation caused renal-hepatic-pancreatic dysplasia has been extended to include skeletal and CNS anomalies.
ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8 (show NEK9 Proteins), INVS (show INVS Proteins) and NPHP3.
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
In six families with nephronophthisis, there were two mutations in either NPHP1 (show NPHP1 Proteins), NPHP3, or NPHP4 (show NPHP4 Proteins), suggesting oligogenicity.
NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects.
screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 (show INVS Proteins) and NPHP3 mutations and determined genotype-phenotype correlations
The presence of congenital malformations in the case series confirms the crucial role of NPHP3 in early embryonic development of the kidneys and urinary tract.
Inv (show INVS Proteins) acts as a molecular anchor for Nphp3 and Nek8 (show NEK8 Proteins) in the proximal segment of primary cilia.
a homozygous missense mutation in Nphp3 is probably responsible for the polycystic kidney disease (pcy) mouse phenotype
The pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice.
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene.
, nephronophthisis 3 (adolescent)
, Meckel syndrome, type 7