Department of Neonatology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Department of Neonatal Pathology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Hereditas. 2019 Dec 26;156:38. doi: 10.1186/s41065-019-0114-8. eCollection 2019.
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.
研究新生儿克罗恩病(CD)的临床和遗传特征,提高对新生儿 CD 的认识,减少漏诊和误诊的患者数量。
一名 10 天大的口腔溃疡中国女孩被收入新生儿科。后来,她出现皮疹和肛周疾病,但没有腹泻和粪便异常。对患者及其父母进行了下一代测序。
结果显示,患者在白细胞介素-10 受体 A(IL-10RA)(NM_001558.3)基因中携带复合杂合突变。一个杂合突变是 c.301 c> T,P.(Arg 101 Trp)在 IL-10RA 的外显子 3 中(错义突变),另一个是 c.537G> A,P.(Thr 179 =)在 IL 10RA 的外显子 4 中(同义突变)。患者的父亲在外显子 3 中也携带 c.301 c> T,P.(Arg 101 Trp)杂合突变,而她的母亲在外显子 4 中携带 c.537G> A,P.(Thr 179 =)杂合突变。
结果表明,IL-10RA 的复合杂合突变与新生儿 CD 有关。伴有皮疹和肛周疾病的口腔溃疡可能是新生儿 CD 的早期症状;因此,此类患者应尽快进行遗传鉴定。