Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation

Haematologica

Volumn 92, Issue 9, 2007, Pages 1262-1263

  Ka, Chandran ^a,b,c   Le Gac, Gérald ^a,b,c   Letocart, Emilie ^a,b,c   Gourlaouen, Isabelle ^a,b,c   Martin, Brigitte ^c   Férec, Claude ^a,b,c,d  

^a INSERM   (France)

^b UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^c ETABLISSEMENT FRANÇAIS DU SANG   (France)

^d BREST UNIVERSITY HOSPITAL   (France)

Author keywords

Hemojuveline dysfunction; Hepcidin synthesis; HJV; Juvenile haemochromatosis

Indexed keywords

FERRITIN; HEPCIDIN;

ARTHRALGIA; ARTICLE; ASTHENIA; BLOOD DONOR; CARDIOMYOPATHY; HEMOCHROMATOSIS; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER DYSFUNCTION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; UPREGULATION;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANTIMICROBIAL CATIONIC PEPTIDES; FEMALE; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MUTATION, MISSENSE; PHENOTYPE; PROMOTER REGIONS (GENETICS);

EID: 36349027619     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11247     Document Type: Article

References (8)

1. Camaschella C, Roetto A, De Gobbi M. Juvenile haemochromatosis. Semin Hematol 2002;39:242-8.
2. Le Gac G, Ferec C. The molecular genetics of haemochromatosis. Eur J Hum Genet 2005;13:1172-85.
3. Aguilar-Martinez P, Lok CY, Cunat S, Cadet E, Robson K, Rochette J. Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. Haematologica 2007;92:421-2.
4. Fleming RE, Bacon BR. Orchestration of iron homeostasis. N Engl J Med 2005;352:1741-4.
5. Franklin W, Huang FW, Pinkus JL, Fleming MD, Andrews NC. A mouse model of juvenile haemochromatosis. J Clin Invest 2005;115:2187-91.
6. Babitt JL, Huang FW, Wrighting DM, Xia Y, Sidis Y, Samad TA, et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet 2006; 38:531-3.
7. Truksa J, Peng H, Lee P, Beutler E. Bone morphogenic proteins 2,4 and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6. Proc Nad Acad Sci USA 2006;103:10209-93.
8. Silvestri L, Pagani A, Fazi C, Gerardi G, Levi S, Arosio P, et al. Defective targeting of hemojuvelin to plasma membrane is a common pathogenic mechanism in juvenile hemochromatosis. Blood 2007;109:4503-10.