Phosphatidate-Phosphatase LPIN2
Das LPIN2-Gen kodiert ein Protein, welches in der Maus ein lipodystrophie-ähnliches Krankheitsbild auslöst, Beim Menschen führen Mutationen zum autosomal rezessiven Majeed-Syndrom.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020