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Phosphatidate phosphatase LPIN2

The LPIN2 gene encodes a protein which causes a lipodystrophy-like phenotype in mice, but in human it is responsible for autosomal recessive Majeed syndrome.

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

Related Diseases:

Majeed syndrome
LPIN2

References:

1.

Nagase T et al. (1996) Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.

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2.

Majeed HA et. al. (1989) Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings.

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3.

Reue K et al. (2000) Adipose tissue deficiency, glucose intolerance, and increased atherosclerosis result from mutation in the mouse fatty liver dystrophy (fld) gene.

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4.

Majeed HA et. al. (2000) On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.

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5.

Péterfy M et al. (2001) Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin.

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6.

Majeed HA et. al. (2001) The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.

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7.

Ferguson PJ et. al. (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

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8.
Update: Aug. 14, 2020
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