Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Schwere Fettsucht
PPARG
SIM1

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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