Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
OBJECTIVE
Blau syndrome is a rare autosomal dominant disorder characterized by early onset granulomatous arthritis, uveitis, skin rash and camptodactyly. We report a familial case of Blau syndrome associated with a CARD15/NOD2 mutation.


METHODS
PCR amplification and automated DNA sequencing of the complete CARD15/NOD2 coding sequence was performed.


RESULTS
Molecular analysis in affected subjects disclosed a heterozygous c.1147G>C point mutation in CARD15/NOD2 exon 4, that predicts a p.E383K change at the protein level.


CONCLUSIONS
Blau syndrome should be considered in the differential diagnosis of childhood uveitis and the genetic analysis of the CARD15/NOD2 gene is helpful in the diagnosis.
Villanueva-Mendoza
Cristina
C
Asociación para Evitar la Ceguera en México, Genetics, México City, Mexico. villanuevacristina@hotmail.com
Arellanes-García
Lourdes
L
Cubas-Lorenzo
Victoria
V
Jimenez-Martinez
Maria C
MC
Flores-Suárez
Luis Felipe
LF
Zenteno
Juan Carlos
JC
D000328:Adult; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D005076:Exanthema / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012008:Recurrence; D013577:Syndrome; D014606:Uveitis, Anterior / Q000235:genetics*; D055815:Young Adult
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein