The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
Open accessAbstract
Background: Majeed syndrome is an autosomal recessive, autoinflammatory disorder characterised by chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. The objectives of this study were to map, identify, and characterise the Majeed syndrome causal gene and to speculate on its function and role in skin and bone inflammation. Methods: Six individuals with Majeed syndrome from two unrelated families were identified for this study. Homozygosity mapping and parametric linkage analysis were employed for the localisation of the gene responsible for Majeed syndrome. Direct sequencing was utilised for the identification of mutations within the genes contained in the region of linkage. Expression studies and in silico characterisation of the identified causal gene and its protein were carried out. Results: The phenotype of Majeed syndrome includes inflammation of the bone and skin, recurrent fevers, and dyserythropoietic anaemia. The clinical picture of the six affected individuals is briefly reviewed. The gene was mapped to a 5.5 cM interval (1.8 Mb) on chromosome 18p. Examination of genes in this interval led to the identification of homozygous mutations in LPIN2 in affected individuals from the two families. LPIN2 was found to be expressed in almost all tissues. The function of LPIN2 and its role in inflammation remains unknown. Conclusions: We conclude that homozygous mutations in LPIN2 result in Majeed syndrome. Understanding the aberrant immune response in this condition will shed light on the aetiology of other inflammatory disorders of multifactorial aetiology including isolated chronic recurrent multifocal osteomyelitis, Sweet syndrome, and psoriasis.
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Fast and sensitive silver staining of DNA in polyacrylamide gels
Bassam, B. J., Caetano-Anollés, G., & Gresshoff, P. M. (1991) · Analytical Biochemistry · doi:10.1016/0003-2697(91)90120-i · Cited by 2,840
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.
Lathrop, M. G., Lalouel, J.-M., Julier, C., & Ott, J. (1985) · Europe PMC (PubMed Central) · Cited by 1,228
Sobel, E. M., & Lange, K. L. (1996) · PubMed Central · Cited by 1,176
Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., & Hobbs, H. H. (2004) · Science · doi:10.1126/science.1099870 · Cited by 1,108
Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination
Broman, K. W., Murray, J. C., Sheffield, V. C., White, R. L., & Weber, J. L. (1998) · The American Journal of Human Genetics · doi:10.1086/302011 · Cited by 1,068
A Human Genome Diversity Cell Line Panel
Cann, H. M., de Toma, C., Cazes, L., Legrand, M.-F., Morel, V., Piouffre, L., Bodmer, J., Bodmer, W. F., Bonne-Tamir, B., Cambon-Thomsen, A., et al. (2002) · Science · doi:10.1126/science.296.5566.261b · Cited by 994
Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin
Péterfy, M., Phan, J., Xu, P., & Reue, K. (2001) · Nature Genetics · doi:10.1038/83685 · Cited by 604
Interferon Regulatory Factor 6 ( IRF6 ) Gene Variants and the Risk of Isolated Cleft Lip or Palate
Zucchero, T. M., Cooper, M. E., Maher, B. S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J., et al. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa032909 · Cited by 579
Consanguineous marriage in Jordan
Khoury, S. A., & Massad, D. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320430502 · Cited by 218
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Jesus, A. A., & Goldbach-Mansky, R. (2014) · Annual Review of Medicine · doi:10.1146/annurev-med-061512-150641 · Cited by 326
The infevers autoinflammatory mutation online registry: update with new genes and functions
Milhavet, F., Cuisset, L., Hoffman, H. M., Slim, R., El-Shanti, H., Aksentijevich, I., Lesage, S., Waterham, H., Wise, C., Sarrauste de Menthiere, C., et al. (2008) · Human Mutation · doi:10.1002/humu.20720 · Cited by 280
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Wipff, J., Costantino, F., Lemelle, I., Pajot, C., Duquesne, A., Lorrot, M., Faye, A., Bader‐Meunier, B., Brochard, K., Despert, V., et al. (2015) · Arthritis & Rheumatology · doi:10.1002/art.39013 · Cited by 271
Lamari, F., Mochel, F., Sedel, F., & Saudubray, J. M. (2013) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9509-7 · Cited by 104
Metadata
- Authors
- Ferguson, P. J., Chen, S., Tayeh, M. K., Ochoa, L., Leal, S. M., Pelet, A., Munnich, A., Lyonnet, S., Majeed, H. A., & El-Shanti, H.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-07
- Volume
- 42
- Issue
- 7
- Pages
- 551-557
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2162089651
- Cited by
- 405
- References
- 15
- FWCI
- 5.82
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Ferguson, P. J., Chen, S., Tayeh, M. K., Ochoa, L., Leal, S. M., Pelet, A., Munnich, A., Lyonnet, S., Majeed, H. A., & El-Shanti, H. (2005). Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). Journal of Medical Genetics. https://doi.org/10.1136/jmg.2005.030759
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