Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Inosin-5'-Monophosphate-Dehydrogenase 1

Das IMPDH1-Gen ein Enzym des Inosin-Stoffwechsels und ist damit an der regulation des Zellwachstums beteiligt. Mutationen verursachen autosomal dominante Lebersche kongenitale Amaurose Typ 11 und Retinitis pigmentosa Typ 10.

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
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 11
IMPDH1

Referenzen:

1.

Bowne SJ et al. (2006) Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

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2.

Natsumeda Y et al. (1990) Two distinct cDNAs for human IMP dehydrogenase.

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3.

Collart FR et al. (1988) Cloning and sequence analysis of the human and Chinese hamster inosine-5'-monophosphate dehydrogenase cDNAs.

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4.

Gu JJ et al. (1994) Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32).

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5.

Doggett NA et al. (1993) Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13.

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6.

Kennan A et al. (2002) Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.

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7.

Bowne SJ et al. (2002) Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

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8.

Aherne A et al. (2004) On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

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9.

Wada Y et al. (2005) Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.

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10.

Bischof JM et al. (2006) Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

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11.

Coussa RG et al. (2015) Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

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12.

NCBI article

NCBI 3614 [^]
13.

OMIM.ORG article

Omim 146690 [^]
14.

Orphanet article

Orphanet ID 122649 [^]
Update: 29. April 2019