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Neonatal Crohn’s disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report
Hereditas ( IF 2.7 ) Pub Date : 2019-12-01 , DOI: 10.1186/s41065-019-0114-8 Hongyan Lv 1, 2 , Baojun Qiao 1 , Liyuan Fang 1 , Lihong Yang 1 , Qiuli Wang 1 , Sujing Wu 1 , Pengshun Ren 1 , Lianxiang Li 2, 3
Hereditas ( IF 2.7 ) Pub Date : 2019-12-01 , DOI: 10.1186/s41065-019-0114-8 Hongyan Lv 1, 2 , Baojun Qiao 1 , Liyuan Fang 1 , Lihong Yang 1 , Qiuli Wang 1 , Sujing Wu 1 , Pengshun Ren 1 , Lianxiang Li 2, 3
Affiliation
ObjectiveTo 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.MethodsA 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.ResultsThe 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.ConclusionsThe 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.
更新日期：2019-12-01
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