Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Interferon-induzierte Helikase C domänen-enthaltendes Protein 1

Das IFIH1-Gen kodiert ein Proteindes angeborenen Immunsystems, welches für die Abwehr von Virusinfektionen und die Interferon 1 Signalgebung verantwortlich ist. Mutationen sind für die autosomal dominanten Erkrankungen Aicardi-Goutières-Syndrom 7 und Singleton-Merten-Syndrom 1 verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Aicardi-Goutières-Syndrom 7
IFIH1
Singleton-Merten-Syndrom 1
IFIH1

Referenzen:

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: 17. Oktober 2019