A splice site mutation confirms the role of LPIN2 in Majeed syndrome

Zakiya S. Al-Mosawi, Khulood K. Al-Saad, Roya Ijadi-Maghsoodi, Hatem I. El-Shanti, Polly J. Ferguson

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Abstract

Majeed syndrome is an autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. To date, 2 unrelated families with Mayeed syndrome have been reported. Mutations in LPIN2 have been found in both families. Here we report a third consanguineous family with Majeed syndrome with a novel mutation. The patient, a 3-year-old Arabic girl, had hepatosplenomegaly and anemia as a neonate. At age 15 months, she developed recurrent episodes of fever and multifocal osteomyelitis. In addition, bone marrow aspiration demonstrated significant dyserythropoiesis, suggesting Majeed syndrome. Coding sequences and splice sites of LPIN2 were sequenced in the patient and her mother. A homozygous single-basepair change was detected in the donor splice site of exon 17 (c.2327+1G>C) in the patient; her mother was heterozygous at this site. These data confirm the role of LPIN2 mutations in the etiology of Majeed syndrome.

Original languageEnglish
Pages (from-to)960-964
Number of pages5
JournalArthritis and Rheumatism
Volume56
Issue number3
DOIs
Publication statusPublished - Mar 2007
Externally publishedYes

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ASJC Scopus subject areas

  • Immunology
  • Rheumatology

Cite this

Al-Mosawi, Z. S., Al-Saad, K. K., Ijadi-Maghsoodi, R., El-Shanti, H. I., & Ferguson, P. J. (2007). A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis and Rheumatism, 56(3), 960-964. https://doi.org/10.1002/art.22431