Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephrocystin 4

Mutations of nephrocystin 4 cause autosomal recessive juvenile nephronophthisis 4.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 04
NPHP4
Senior-Loken syndrome 4
NPHP4

References:

1.

Hoefele J et al. (2004) Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

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2.

Mollet G et al. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.

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3.

Hoefele J et al. (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

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4.

NCBI article

NCBI 261734 [^]
5.

OMIM.ORG article

Omim 607215 [^]
6.

Orphanet article

Orphanet ID 123884 [^]
7.

Wikipedia article

Wikipedia EN (NPHP4) [^]
Update: April 29, 2019