Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Single-minded homolog 1

SIM1 encondes a protein with various not yet determined control functions in development of central nervous system and kidneys. Mutations cause a severe autosomal dominant form of obesity.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Severe obesity
PPARG
SIM1

References:

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 external link
8.

NCBI article

NCBI 6492 external link
9.

OMIM.ORG article

Omim 603128 external link
10.

Wikipedia article

Wikipedia EN (SIM1) external link
Update: Aug. 14, 2020
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