Abstract
Originalsprog | Engelsk |
---|---|
Tidsskrift | Scandinavian Journal of Rheumatology |
Vol/bind | 38 |
Udgave nummer | 3 |
Sider (fra-til) | 190-7 |
Antal sider | 7 |
ISSN | 0300-9742 |
DOI | |
Status | Udgivet - 2009 |
Bibliografisk note
Keywords: Adolescent; Adult; Aged; Arthritis; Dermatitis; Family Health; Female; Granuloma; Humans; Male; Nod2 Signaling Adaptor Protein; Norway; Pedigree; Point Mutation; Skin Diseases, Genetic; Syndrome; UveitisAdgang til dokumentet
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I: Scandinavian Journal of Rheumatology, Bind 38, Nr. 3, 2009, s. 190-7.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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TY - JOUR
T1 - A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members
AU - Milman, N
AU - Ursin, K
AU - Rødevand, E
AU - Nielsen, Finn Cilius
AU - Hansen, T V O
N1 - Keywords: Adolescent; Adult; Aged; Arthritis; Dermatitis; Family Health; Female; Granuloma; Humans; Male; Nod2 Signaling Adaptor Protein; Norway; Pedigree; Point Mutation; Skin Diseases, Genetic; Syndrome; Uveitis
PY - 2009
Y1 - 2009
N2 - BACKGROUND: Blau syndrome is a chronic granulomatous disease with an autosomal dominant trait characterized by the triad granulomatous dermatitis, arthritis, and uveitis. It is caused by mutations in the NOD2 gene, also termed the CARD15 gene. OBJECTIVE: To report a novel mutation in the NOD2 gene associated with Blau syndrome. METHODS AND RESULTS: The proband was a 68-year-old ethnic Norwegian male who had uveitis and arthritis since 10 years of age followed by lifelong recurrent arthritis and chronic eye involvement. Genetic analysis showed a heterozygous c.1814 C>A, T605N mutation in NOD2 that has not previously been described. All of his three children had Blau syndrome and had inherited the NOD2 mutation. The proband's first son had exanthema, arthritis, and uveitis from 10 years of age and later presented with granulomatous lymphadenopathy, granulomatous parotitis, and granulomatous intestinal inflammation. The proband's daughter had arthritis, uveitis, and exanthema from 3 years of age. The proband's second son had uveitis, exanthema, and arthritis from 1.5 years of age. None of the cases had any involvement of the heart or lungs. CONCLUSION: We report a novel Blau syndrome-associated mutation with an autosomal dominant heritage. Most likely the mutation has arisen de novo in the proband. Genetic counselling and antenatal diagnostics should be available to the involved families.
AB - BACKGROUND: Blau syndrome is a chronic granulomatous disease with an autosomal dominant trait characterized by the triad granulomatous dermatitis, arthritis, and uveitis. It is caused by mutations in the NOD2 gene, also termed the CARD15 gene. OBJECTIVE: To report a novel mutation in the NOD2 gene associated with Blau syndrome. METHODS AND RESULTS: The proband was a 68-year-old ethnic Norwegian male who had uveitis and arthritis since 10 years of age followed by lifelong recurrent arthritis and chronic eye involvement. Genetic analysis showed a heterozygous c.1814 C>A, T605N mutation in NOD2 that has not previously been described. All of his three children had Blau syndrome and had inherited the NOD2 mutation. The proband's first son had exanthema, arthritis, and uveitis from 10 years of age and later presented with granulomatous lymphadenopathy, granulomatous parotitis, and granulomatous intestinal inflammation. The proband's daughter had arthritis, uveitis, and exanthema from 3 years of age. The proband's second son had uveitis, exanthema, and arthritis from 1.5 years of age. None of the cases had any involvement of the heart or lungs. CONCLUSION: We report a novel Blau syndrome-associated mutation with an autosomal dominant heritage. Most likely the mutation has arisen de novo in the proband. Genetic counselling and antenatal diagnostics should be available to the involved families.
U2 - 10.1080/03009740802464194
DO - 10.1080/03009740802464194
M3 - Journal article
C2 - 19169908
SN - 0300-9742
VL - 38
SP - 190
EP - 197
JO - Scandinavian Journal of Rheumatology
JF - Scandinavian Journal of Rheumatology
IS - 3
ER -