A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members

N Milman; K Ursin; E Rødevand; Finn Cilius Nielsen; T V O Hansen

doi:10.1080/03009740802464194

A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members

N Milman, K Ursin, E Rødevand, Finn Cilius Nielsen, T V O Hansen

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

32 Citationer (Scopus)

Abstract

Udgivelsesdato: null-null

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	https://doi.org/10.1080/03009740802464194
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; Uveitis

Adgang til dokumentet

10.1080/03009740802464194

Citationsformater

@article{e985287072d611df928f000ea68e967b,

title = "A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members",

abstract = "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.",

author = "N Milman and K Ursin and E R{\o}devand and Nielsen, {Finn Cilius} and Hansen, {T V O}",

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; Uveitis",

year = "2009",

doi = "10.1080/03009740802464194",

language = "English",

volume = "38",

pages = "190--7",

journal = "Scandinavian Journal of Rheumatology",

issn = "0300-9742",

publisher = "Taylor & Francis",

number = "3",

}

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 -