Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 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. |
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