Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

ABSTRACT: The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The NOD2 mutational hot spot located in exon 4 was Sanger sequenced in all three probands. Two individuals also underwent autoinflammatory disorder gene panel screening, and in one subject, exome sequencing was performed. Blau syndrome presenting as uveitis, skin rush or arthritis was diagnosed in four cases from three families. In two individuals from one family, only camptodactyly was noted, while another member had camptodactyly in combination with non-active uveitis and angioid streaks. One proband developed two attacks of meningoence

SUBMITTER: Brichova M 

PROVIDER: S-EPMC11203189 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature