Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis

• Published in: Genes 2024-04, Vol.15 (4), p.513
• Main Authors: de Oliveira-Sobrinho, Ruy Pires, Appenzeller, Simone, Holanda, Ianne Pessoa, Heleno, Júlia Lôndero, Jorente, Josep, On Behalf Of The Rare Genomes Project Consortium, Vieira, Társis Paiva, Steiner, Carlos Eduardo
• Format: Article
• Language: English
• Subjects: Age; Arthritis; Arthritis, Juvenile - genetics; Bones; Child; Child, Preschool; Development and progression; DiGeorge Syndrome - genetics; Disease; DNA sequencing; Etiology; Genes; Genomes; Genomics; Hands; Health aspects; Humans; Intramolecular Oxidoreductases - genetics; Learning disabilities; Macrophage Migration-Inhibitory Factors - genetics; Male; NOD2 protein; Nucleotide sequencing; Proteins; Type 2 diabetes; Vertebrae; Whole Genome Sequencing
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes15040513

Juvenile idiopathic arthritis is a heterogeneous group of diseases characterized by arthritis with poorly known causes, including monogenic disorders and multifactorial etiology. 22q11.2 proximal deletion syndrome is a multisystemic disease with over 180 manifestations already described. In this report, the authors describe a patient presenting with a short stature, neurodevelopmental delay, and dysmorphisms, who had an episode of polyarticular arthritis at the age of three years and eight months, resulting in severe joint limitations, and was later diagnosed with 22q11.2 deletion syndrome. Investigation through Whole Genome Sequencing revealed that he had no pathogenic or likely-pathogenic variants in both alleles of the gene or in genes associated with monogenic arthritis ( , , , , , , , , , , ). However, the patient presented 41 risk polymorphisms for juvenile idiopathic arthritis. Thus, in the present case, arthritis seems coincidental to 22q11.2 deletion syndrome, probably caused by a multifactorial etiology. The association of the gene in individuals previously described with juvenile idiopathic arthritis and 22q11.2 deletion seems unlikely since it is located in the distal and less-frequently deleted region of 22q11.2 deletion syndrome.