Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Ribonuclease H2 subunit B

The RNASEH2B gene encodes a subunit of an emzyme that cleaves specific nucleotides. Mutations cause autosomal recessive Aicardi-Goutieres syndrome 2.

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 2
RNASEH2B

References:

1.

Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

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2.

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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3.

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

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4.

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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5.

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

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Update: Aug. 14, 2020
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