Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
説明
<jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the <jats:italic>LPIN2</jats:italic> gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome.</jats:p> </jats:sec><jats:sec> <jats:title>Case presentation</jats:title> <jats:p>We report an 8-month-old boy, who presented with recurrent fever, mild to moderate anemia, and severe neutropenia. Erythrocyte sedimentation rate and C-reactive protein were elevated. Molecular testing identified a paternal splicing donor site variant c.2327 + 1G > C and a maternal frameshift variant c.1691_1694delGAGA (Arg564Lysfs*3) in <jats:italic>LPIN2.</jats:italic></jats:p> </jats:sec><jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Only a few cases with <jats:italic>LPIN2</jats:italic> mutation have been reported, mainly in the Middle East with homozygous variants. Our patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.</jats:p> </jats:sec>
収録刊行物
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- BMC Medical Genetics
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BMC Medical Genetics 20 (1), 2019-11-14
Springer Science and Business Media LLC
