PMID- 10369262
OWN - NLM
STAT- MEDLINE
DCOM- 19990629
LR  - 20101118
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 2
DP  - 1999 Jun
TI  - Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic
      fever syndrome. International Hyper-IgD Study Group.
PG  - 178-81
AB  - Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a
      rare, apparently monogenic, autosomal recessive disorder characterized by
      recurrent episodes of fever accompanied with lymphadenopathy, abdominal distress,
      joint involvement and skin lesions. All patients have high serum IgD values (>100
      U/ml) and HIDS 'attacks' are associated with an intense acute phase reaction
      whose exact pathophysiology remains obscure. Two other hereditary febrile
      disorders have been described. Familial Mediterranean fever (MIM 249100) is an
      autosomal recessive disorder affecting mostly populations from the Mediterranean 
      basin and is caused by mutations in the gene MEFV (refs 5,6). Familial Hibernian 
      fever (MIM 142680), also known as autosomal dominant familial recurrent fever, is
      caused by missense mutations in the gene encoding type I tumour necrosis factor
      receptor. Here we perform a genome-wide search to map the HIDS gene. Haplotype
      analysis placed the gene at 12q24 between D12S330 and D12S79. We identified the
      gene MVK, encoding mevalonate kinase (MK, ATP:mevalonate 5-phosphotransferase; EC
      2.7.1.36), as a candidate gene. We characterized 3 missense mutations, a 92-bp
      loss stemming from a deletion or from exon skipping, and the absence of
      expression of one allele. Functional analysis demonstrated diminished MK activity
      in fibroblasts from HIDS patients. Our data establish MVK as the gene responsible
      for HIDS.
FAU - Drenth, J P
AU  - Drenth JP
AD  - Laboratoire de Genetique Moleculaire Humaine, Institut Cochin de Genetique
      Moleculaire and Hopital Cochin, Assistance Publique-Hopitaux de Paris, France.
FAU - Cuisset, L
AU  - Cuisset L
FAU - Grateau, G
AU  - Grateau G
FAU - Vasseur, C
AU  - Vasseur C
FAU - van de Velde-Visser, S D
AU  - van de Velde-Visser SD
FAU - de Jong, J G
AU  - de Jong JG
FAU - Beckmann, J S
AU  - Beckmann JS
FAU - van der Meer, J W
AU  - van der Meer JW
FAU - Delpech, M
AU  - Delpech M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (DNA Primers)
RN  - 0 (Immunoglobulin D)
RN  - EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor))
RN  - EC 2.7.1.36 (mevalonate kinase)
SB  - IM
CIN - Nat Genet. 1999 Jun;22(2):121-2. PMID: 10369246
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - DNA Primers
MH  - Female
MH  - Fever/enzymology/*genetics
MH  - Genetic Linkage
MH  - Humans
MH  - Hypergammaglobulinemia/enzymology/*genetics
MH  - *Immunoglobulin D
MH  - Lod Score
MH  - Male
MH  - Periodicity
MH  - Phosphotransferases (Alcohol Group Acceptor)/*genetics
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Recurrence
MH  - Syndrome
EDAT- 1999/06/16 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/06/16 10:00
PHST- 1999/06/16 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/06/16 10:00 [entrez]
AID - 10.1038/9696 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Jun;22(2):178-81. doi: 10.1038/9696.