title: A splice site mutation confirms the role of LPIN2 in Majeed syndrome.
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 Majeed 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.
authors.affiliation: Salmanyia Medical Complex, Manama, Kingdom of Bahrain.
authors.forename: Zakiya S
authors.initials: ZS
authors.lastname: Al-Mosawi
authors.forename: Khulood K
authors.initials: KK
authors.lastname: Al-Saad
authors.forename: Roya
authors.initials: R
authors.lastname: Ijadi-Maghsoodi
authors.forename: Hatem I
authors.initials: HI
authors.lastname: El-Shanti
authors.forename: Polly J
authors.initials: PJ
authors.lastname: Ferguson
mesh_terms: D000595:Amino Acid Sequence; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010019:Osteomyelitis / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: C502575:LPIN2 protein, human; D009687:Nuclear Proteins