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Center for Nephrology and Metabolic Disorders
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Interferon-induced helicase C domain-containing protein 1

The IFIH1 gene encodes a protein involved in innate immunity agains viruses by interferone 1 sinaling. Mutations cause autosomal dominant Aicardi-Goutieres syndrome 7 and Singleton-Merten syndrome 1,

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 7
IFIH1
Singleton-Merten syndrome 1
IFIH1

References:

1.

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

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2.

Liddicoat BJ et al. (2015) RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself.

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3.

Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.

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4.

Kang DC et al. (2002) mda-5: An interferon-inducible putative RNA helicase with double-stranded RNA-dependent ATPase activity and melanoma growth-suppressive properties.

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5.

Kato H et al. (2006) Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses.

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6.

Colli ML et al. (2010) MDA5 and PTPN2, two candidate genes for type 1 diabetes, modify pancreatic beta-cell responses to the viral by-product double-stranded RNA.

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7.

Ferreira RC et al. (2010) Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

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8.

Valverde I et al. (2010) Singleton-merten syndrome and impaired cardiac function.

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9.

Robinson T et al. (2011) Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-α and serologic autoimmunity in lupus patients.

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10.

Motz C et al. (2013) Paramyxovirus V proteins disrupt the fold of the RNA sensor MDA5 to inhibit antiviral signaling.

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11.

Funabiki M et al. (2014) Autoimmune disorders associated with gain of function of the intracellular sensor MDA5.

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12.

Rice GI et al. (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

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13.

Oda H et al. (2014) Aicardi-Goutières syndrome is caused by IFIH1 mutations.

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14.

Rutsch F et al. (2015) A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

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Update: Aug. 14, 2020
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