Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The RNASEH2A gene encodes a subunit of an emzyme that cleaves specific nucleotides. Mutations cause autosomal recessive Aicardi-Goutieres syndrome 4.
| 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 |
| Research | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Frank P et al. (1998) Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII. 
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| 2. |
Sanchis A et al. (2005) Genetic syndromes mimic congenital infections.
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| 3. |
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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| 4. |
Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
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| 5. |
Coffin SR et al. (2011) Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
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| 6. |
Kim N et al. (2011) Mutagenic processing of ribonucleotides in DNA by yeast topoisomerase I.
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| 7. |
Rice GI et al. (2013) Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
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| 8. |
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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| 9. |
Pokatayev V et al. (2016) RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice.
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| 10. |
Zimmermann M et al. (2018) CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
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