title: Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics and Developmental Medicine, Gunma University Graduate School of Medicine, 3-39-15 Showa-machi, Maebashi, Gunma 371-8511, Japan.
authors.forename: Takahisa
authors.initials: T
authors.lastname: Mizuno
authors.forename: Hidemasa
authors.initials: H
authors.lastname: Sakai
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.forename: Koichi
authors.initials: K
authors.lastname: Oshima
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.forename: Ikue
authors.initials: I
authors.lastname: Hata
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Takashi
authors.initials: T
authors.lastname: Ishige
authors.forename: Kazushi
authors.initials: K
authors.lastname: Tamura
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Arakawa
mesh_terms: D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase