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A splice site mutation confirms the role of LPIN2 in Majeed syndrome
Journal article   Open access   Peer reviewed

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 and Polly J Ferguson
Arthritis and rheumatism, Vol.56(3), pp.960-964
03/2007
DOI: 10.1002/art.22431
PMID: 17330256
url
https://doi.org/10.1002/art.22431View
Published (Version of record) Open Access

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.
 Amino Acid Sequence Diagnosis, Differential Skin Diseases - genetics Humans Osteomyelitis - genetics Anemia, Dyserythropoietic, Congenital - genetics Anemia, Dyserythropoietic, Congenital - diagnosis Child, Preschool Molecular Sequence Data Syndrome Skin Diseases - diagnosis Osteomyelitis - diagnosis Pedigree Female Mutation Nuclear Proteins - genetics

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