Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).
Clin Rheumatol
; 38(2): 403-406, 2019 Feb.
Article
em En
| MEDLINE
| ID: mdl-30066283
ABSTRACT
Neonatal-Onset Multisystem Inflammatory Disease (NOMID) or Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome is a monogenic autoinflammatory disorder characterized by urticarial skin rash, fever, chronic meningitis and joint manifestations. Here we report a case of an Indian male child who presented at the age of 9 months with fever, respiratory distress, urticarial skin rash, arthritis, and neuroregression. Suspecting NOMID/CINCA syndrome, the child's blood was sent to the Jaslok Hospital and Research Centre for mutation analysis of the CIAS1/NLRP3 gene. The DNA was screened for mutations in exon 3 of CIAS1/NLRP3 gene by automated Sanger sequencing. DNA sequencing showed a novel heterozygous c.1813AâG, p.R605G mutation in exon 3 of CIAS1/NLRP3 gene (ref no NM_001243133.1). His parents tested negative for this mutation. We therefore identified a novel de novo mutation in this family in the CIAS1/NLRP3 gene responsible for the child's clinical features.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Periódicas Associadas à Criopirina
/
Proteína 3 que Contém Domínio de Pirina da Família NLR
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Clin Rheumatol
Ano de publicação:
2019
Tipo de documento:
Article