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Case Reports
. 2020 Feb 1;59(2):448-451.
doi: 10.1093/rheumatology/kez317.

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

Noémi B A Roy  1   2 , Ahmad I Zaal  3   4 , Georgina Hall  5 , Nick Wilkinson  6 , Melanie Proven  7 , Simon McGowan  8 , Ria Hipkiss  7 , Veronica Buckle  9 , Akhila Kavirayani  3 , Christian Babbs  9
Affiliations
Case Reports

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

Noémi B A Roy et al. Rheumatology (Oxford). .
No abstract available

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Figures

<sc>Fig</sc>. 1
Fig. 1
Family affected by Majeed syndrome (A) Pedigree, the genotype of LPIN2 c.2208 is shown under each individual. Black symbols indicate severely affected individuals, grey symbols represent mildly affected individuals and the white symbol indicates the father, who manifested no clinical symptoms. (B) Chromatograms from a control sample (top) and family members as indicated (left), all showing homozygosity for the c.2208 G > A missense change in exon 17 of LPIN2. (C) Alignment of lipin-2 amino acid sequence from a variety of species showing the R736 residue altered in the family reported here is conserved to the nematode C. elegans, indicating ∼600 million years of evolutionary conservation. This region of the protein is highly conserved, and residue S734 is also indicated for comparison as this is an established cause of Majeed syndrome. (D) MRI images showing inflammation in the affected limb and knee joint of the patient before (arrows show active osteitis) and after (arrows show resolving residual osteitis) treatment with anakinra.
See this image and copyright information in PMC

References

    1. Ferguson P, Chen S, Tayeh M. 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;42:551–7. - PMC - PubMed
    1. Herlin T, Fiirgaard B, Bjerre M. et al. Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis 2013;72:410–3. - PMC - PubMed
    1. Al-Mosawi Z, Al-Saad K, Ijadi-Maghsoodi R, El-Shanti H, Ferguson P.. A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum 2007;56:960–4. - PubMed
    1. Girschick H, Raab P, Surbaum S. et al. Chronic non-bacterial osteomyelitis in children. Ann Rheum Dis 2005;64:279–85. - PMC - PubMed
    1. Roy N, Wilson E, Henderson S. et al. A novel 33-gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. Br J Haematol 2016;175:318–30. - PMC - PubMed

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