Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016 Jun;43(6):1258-9.
doi: 10.3899/jrheum.151193.

Phenotypic Variability in Majeed Syndrome

Anand Prahalad Rao  1 , Dharmanand Balebail Gopalakrishna  1 , Xinyu Bing  2 , Polly J Ferguson  3
Affiliations
Case Reports

Phenotypic Variability in Majeed Syndrome

Anand Prahalad Rao et al. J Rheumatol. 2016 Jun.
No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest: The authors have no conflicts of interest to disclose.

Figures

Figure
Figure
Majeed Syndrome with phenotypic variability: A) Pedigree. Affected IV.1 (proband) and IV.4 (cousin) are in solid black; B) Tc99 bone scan (proband – IV.1) shows increased uptake in the knees, ankles and the right calcaneus in the proband; his cousin IV.4 shows symmetric uptake in the epiphyses of the long bones of the lower extremities C) MRI shows increased signal intensity in the tibial metaphyses in the proband, D) Sequencing on IV.1 and IV.2 show homozygous c.2241_2243delinsGG LPIN2 mutation.
See this image and copyright information in PMC

References

    1. Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr. 2001;160:705–710. - PubMed
    1. Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ. A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum. 2007;56:960–964. - PubMed
    1. Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, et al. Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis. 2013;72:410–413. - PMC - PubMed
    1. Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) J Med Genet. 2005;42:551–557. - PMC - PubMed
    1. Donkor J, Sariahmetoglu M, Dewald J, Brindley DN, Reue K. Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns. J Biol Chem. 2007;282:3450–3457. - PubMed

MeSH terms

Supplementary concepts

LinkOut - more resources