Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Ribonuclease H2 subunit C

The RNASEH2C gene encodes a subunit of an emzyme that cleaves specific nucleotides. Mutations cause autosomal recessive Aicardi-Goutieres syndrome 3.

Genetests:

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

Related Diseases:

Aicardi-Goutieres syndrome 3
RNASEH2C

References:

1.

Crow YJ et al. (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

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2.

Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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3.

Kind B et al. (2014) Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.

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4.

Zimmermann M et al. (2018) CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.

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5.

Hiller B et al. (2012) Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity.

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6.

Vogt J et al. (2013) Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

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Update: Aug. 14, 2020
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