Clinical and genetic analysis of IL11RA-related Crouzon-like syndrome
10.3760/cma.j.cn113694-20200519-00369
- VernacularTitle:IL11RA相关Crouzon样综合征一例临床特点及基因突变分析
- Author:
Xuanqi XU
1
;
Suli LI
;
Yibing CHENG
;
Haijun WANG
;
Xuan ZHENG
;
Daoqi MEI
;
Dongxiao LI
;
Shubin FENG
;
Shiyue MEI
Author Information
1. 郑州大学附属儿童医院（河南省儿童医院，郑州儿童医院）急诊科 450018
- From:
Chinese Journal of Neurology
2020;53(11):918-923
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical manifestation, genetic characteristics, treatment and prognosis of Crouzon-like syndrome.Methods:Clinical data of one case of Crouzon-like syndrome diagnosed in Children′s Hospital Affiliated to Zhengzhou University in May 2019 were collected, including clinical test, treatment plan, follow-up outcomes. The clinical characteristics and the mutation characteristics of IL11RA-related Crouzon-like syndrome were analyzed combined with the literature.Results:The male proband, five years and four months old, was admitted with the main clinical manifestations including headache, vomiting, exophthalmos, ocular hypertelorism, nasal root flat and scaphocephaly. CT showed that the cerebellar tonsil moved down slightly, the occipital magnum was full, the bilateral cranial plates were locally thinner, the bilateral cranial diameters were increased, and the cranial seams were closed. Magnetic resonance imaging showed ChiariⅠmalformation. The mutation c.40_63del and splice site mutation c.811-2A>G of the patient′s IL11RA gene were screened by whole exome sequencing. Sanger sequencing showed that the mutations are compound heterozygous and both are first reported. The mutation c.811-2A>G was derived from the patient′s mother, and the other one is de novo.Conclusions:The main clinical manifestations of Crouzon-like syndrome are craniosynostosis and midface hypoplasia and ocular deformity. The study identified two novel mutations in the Crouzon-like syndrome related IL11RA gene. Genetic sequencing is helpful for accurate diagnosis and timely surgical treatment.
