Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

alpha-ketoglutarate-dependent dioxygenase FTO

The exact physiological function of the enzyme encoded by the FTO gene is yet unknown. Genetic alterations cause obesity type 14 and growth and developmental delay with facial dysmorphisms

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Growth retardation with developmental delay and facial dysmorphism
FTO
BMI effecting trait 14
FTO

References:

1.

Scott LJ et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

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2.

Zeggini E et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

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3.

van der Hoeven F et. al. (1994) Programmed cell death is affected in the novel mouse mutant Fused toes (Ft).

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4.

Peters T et. al. (1999) Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation.

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5.

Frayling TM et. al. (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

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6.

Dina C et. al. (2007) Variation in FTO contributes to childhood obesity and severe adult obesity.

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7.

Gerken T et. al. (2007) The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase.

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8.

Meyre D et. al. (2009) Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.

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9.

Fischer J et. al. (2009) Inactivation of the Fto gene protects from obesity.

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10.

Boissel S et. al. (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

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11.

Han Z et. al. (2010) Crystal structure of the FTO protein reveals basis for its substrate specificity.

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12.

Church C et. al. (2010) Overexpression of Fto leads to increased food intake and results in obesity.

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13.

Claussnitzer M et. al. (2015) FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.

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14.

Daoud H et. al. (2016) Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

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Update: Sept. 26, 2018