SIM-Homolog 1
Das SIM1-Gen kodiert ein Protein, welches bei der Ontogenese des Zentralnervensystems und der Niere eine Bedeutung zu besitzen scheint. Mutationen führen zu schwerer autosomal dominanter Adipositas.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Fan CM et al. (1996) Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome.
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2. |
Chrast R et al. (1997) Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.
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3. |
Holder JL et al. (2000) Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
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4. |
Michaud JL et al. (2001) Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.
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5. |
Faivre L et al. (2002) Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
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6. |
Bonnefond A et al. (2013) Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
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7. |
Orphanet article
Orphanet ID 158398
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8. |
NCBI article
NCBI 6492
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9. |
OMIM.ORG article
Omim 603128
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Update: 14. August 2020