Document Detail


A splice site mutation confirms the role of LPIN2 in Majeed syndrome.
MedLine Citation:
PMID:  17330256     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Zakiya S Al-Mosawi; Khulood K Al-Saad; Roya Ijadi-Maghsoodi; Hatem I El-Shanti; Polly J Ferguson
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  Arthritis and rheumatism     Volume:  56     ISSN:  0004-3591     ISO Abbreviation:  Arthritis Rheum.     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-03-21     Completed Date:  2007-04-12     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  0370605     Medline TA:  Arthritis Rheum     Country:  United States    
Other Details:
Languages:  eng     Pagination:  960-4     Citation Subset:  AIM; IM    
Affiliation:
Salmanyia Medical Complex, Manama, Kingdom of Bahrain.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Anemia, Dyserythropoietic, Congenital / diagnosis,  genetics*
Child, Preschool
Diagnosis, Differential
Female
Humans
Molecular Sequence Data
Mutation*
Nuclear Proteins / genetics*
Osteomyelitis / diagnosis,  genetics*
Pedigree
Skin Diseases / diagnosis,  genetics*
Syndrome
Grant Support
ID/Acronym/Agency:
1- R03-AR-051130-01/AR/NIAMS NIH HHS; 1-R21-AR-053924-01/AR/NIAMS NIH HHS
Chemical
Reg. No./Substance:
0/LPIN2 protein, human; 0/Nuclear Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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