Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Inversin

The gene controls embryonic turning. Mutations cause situs inversus and infantile nephronophthisis.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 30
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 2
INVS

References:

1.

Otto EA et al. (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

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2.

Simons M et al. (2005) Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways.

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3.

O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis.

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4.

Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

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5.

Mochizuki T et al. (1998) Cloning of inv, a gene that controls left/right asymmetry and kidney development.

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6.

Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

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Update: Sept. 26, 2018