A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q

• Main Authors: Fan Zhang (Author), Liang Zhang (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/s12969-023-00947-z; 1546-0096
• Keywords: A20 haploinsufficiency; Chromosome deletion; Autoinflammatory; Neonate; Pediatrics; RJ1-570; Diseases of the musculoskeletal system; RC925-935
• Source: Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-7 (2024)

Abstract Haploinsufficiency of A20 (HA20) is a rare monogenic disease caused by heterozygous loss-of-function mutations in the tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene located on chromosome 6q23.3. The majority of disease-causing mutations in most cases of HA20 comprise single nucleotide variations, small insertions, or deletions in TNFAIP3, which result in a premature termination codon and subsequent disruption of its anti-inflammatory role. Large deletions have been reported sporadically. HA20 patients may present with a variety of autoinflammatory and autoimmune features during early childhood; however, cases with neonatal onset are rare. Here, we describe a Chinese neonate presenting with concomitant inflammatory and other syndromic manifestations caused by a 5.15 Mb interstitial deletion in chromosome 6; these deletions affect TNFAIP3. Taken together, the data extend the clinical and genetic spectra of HA20.