Neonatal Crohn’s disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report

• Published in: Hereditas Vol. 156; no. 1; p. 38
• Main Authors: Lv, Hongyan, Qiao, Baojun, Fang, Liyuan, Yang, Lihong, Wang, Qiuli, Wu, Sujing, Ren, Pengshun, Li, Lianxiang
• Format: Journal Article
• Language: English
• Published: England BioMed Central 26.12.2019; BMC
• Subjects: Alleles; Antibiotics; Autoimmune diseases; Brief Report; Case reports; case studies; Crohn Disease - complications; Crohn Disease - genetics; Crohn's disease; Cytokines; Deoxyribonucleic acid; Diarrhea; Disease Susceptibility; DNA; Exanthema; Exons; Family medical history; Female; Fever; Fistula; Genes; Genetic Association Studies; Genetic mutation; genetic testing; girls; heterozygosity; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Inflammatory bowel disease; Interleukin 10; Interleukin-10 receptor a; Interleukin-10 Receptor alpha Subunit - genetics; Laboratories; Maternal & child health; Missense mutation; Mutation; Neonate; Neonates; Next-generation sequencing; Oral ulcer; Oral Ulcer - complications; Oral Ulcer - diagnosis; Parents & parenting; patients; Phenotype; Ulcers; United States > US; Inflammatory bowel disease; Interleukin-10 receptor a; Neonate; Oral ulcer; Genetic mutation; Crohn’s disease
• ISSN: 1601-5223; 0018-0661; 1601-5223
• DOI: 10.1186/s41065-019-0114-8

To investigate the clinical and genetic characteristics of neonatal Crohn's disease (CD), improve recognition of neonatal CD, and reduce the number of patients that are missed or misdiagnosed. A 10-day-old Chinese girl with oral ulcers was admitted to the Department of Neonatology. She later developed a rash and perianal disease, but without diarrhea and stool abnormalities. The patient and her parents underwent next-generation sequencing The results showed that the patient carries a compound heterozygous mutation in the interleukin-10 receptor A (IL-10RA) (NM_001558.3) gene. One heterozygous mutation was c.301 c > T, P. (Arg 101 Trp) in exon 3 of IL-10RA (a missense mutation), and the other was c. 537G > A, P. (Thr 179 =) in exon 4 of IL 10RA (a synonymous mutation). The patient's father also carries the c.301 c > T, P. (Arg 101 Trp) heterozygous mutation in exon 3 of IL-10RA, whereas her mother carries the c.537G > A, P. (Thr 179 =) heterozygous mutation in exon 4 of IL-10RA. The results show that a compound heterozygous mutation in IL-10RA is associated with neonatal CD. Oral ulcers with a rash and perianal disease may be an early symptom of neonatal CD; therefore, such patients should undergo genetic identification as soon as possible.