Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) is a recessively inherited recurrent fever syndrome. We describe a family of eldest son and monozygotic twin younger sisters with characteristic syndrome of HIDS, but normal level of IgD. Mevalonate kinase (MK) activity was deficient in a...

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Bibliographic Details
Published in:Rheumatology international 2012-12, Vol.32 (12), p.3761-3764
Main Authors: Mizuno, Takahisa, Sakai, Hidemasa, Nishikomori, Ryuta, Oshima, Koichi, Ohara, Osamu, Hata, Ikue, Shigematsu, Yosuke, Ishige, Takashi, Tamura, Kazushi, Arakawa, Hirokazu
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group - genetics
Child, Preschool
Exons
Female
Humans
Infant
Japan
Male
Medicine
Medicine & Public Health
Mevalonate Kinase Deficiency - genetics
Mutation
Original Article
Pedigree
Phosphotransferases (Alcohol Group Acceptor) - genetics
Rheumatology
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Summary:Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) is a recessively inherited recurrent fever syndrome. We describe a family of eldest son and monozygotic twin younger sisters with characteristic syndrome of HIDS, but normal level of IgD. Mevalonate kinase (MK) activity was deficient in all of them, and analysis of the MVK gene revealed compound heterozygosity for 2 new mutations, one of which was the disease-causing splicing mutation and the other was a novel missense mutation. All the patients had the same compound heterozygous mutations c.227-1 G > A and c.833 T > C, which resulted in exon 4 skipping and p.Val278Ala. This is the first case in which exon skipping mutation of the MVK gene has been certainly identified at the genomic DNA level. In each case, in which HIDS is clinically suspected, despite normal IgD level, analysis of MK activity and the MVK gene should be performed.
ISSN:0172-8172
1437-160X
DOI:10.1007/s00296-011-2225-z