دورية أكاديمية
Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease
| العنوان: | Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease |
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| المؤلفون: | Michaela Brichova, Aneta Klimova, Jarmila Heissigerova, Petra Svozilkova, Manuela Vaneckova, Pavla Dolezalova, Dana Nemcova, Marcela Michalickova, Jana Jedlickova, Lubica Dudakova, Petra Liskova |
| المصدر: | Genes, Vol 15, Iss 6, p 799 (2024) |
| بيانات النشر: | MDPI AG, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Blau syndrome, early onset sarcoidosis, uveitis, NOD2, autoinflammation, neurosarcoidosis, Genetics, QH426-470 |
| الوصف: | 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 meningoencephalitis attributed to presumed neurosarcoidosis, which is a rare finding in Blau syndrome. The probands from families 1 and 2 carried pathogenic variants in NOD2 (NM_022162.3): c.1001G>A p.(Arg334Gln) and c.1000C>T p.(Arg334Trp), respectively. In family 3, two variants of unknown significance in a heterozygous state were found: c.1412G>T p.(Arg471Leu) in NOD2 and c.928C>T p.(Arg310*) in NLRC4 (NM_001199139.1). In conclusion, Blau syndrome is a phenotypically highly variable, and there is a need to raise awareness about all clinical manifestations, including neurosarcoidosis. Variants of unknown significance pose a significant challenge regarding their contribution to etiopathogenesis of autoinflammatory diseases. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 15060799 2073-4425 |
| العلاقة: | https://www.mdpi.com/2073-4425/15/6/799Test; https://doaj.org/toc/2073-4425Test |
| DOI: | 10.3390/genes15060799 |
| الوصول الحر: | https://doaj.org/article/c98878a6b1f7490aa0f850fb73890ce5Test |
| رقم الانضمام: | edsdoj.98878a6b1f7490aa0f850fb73890ce5 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 15060799 20734425 |
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| DOI: | 10.3390/genes15060799 |