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 |
Verknüpfte Erkrankungen:
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
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13. |
OMIM.ORG article
Omim 146690
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14. |
Orphanet article
Orphanet ID 122649
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Update: 14. August 2020