摘要
目的探讨Currarino综合征患者的临床表现及运动神经元与胰腺同源框基因（motor neuron and pancrea shomeobox 1 gene，MNXl基因）突变的特点。方法利用染色体芯片技术对Currarino综合征患者进行全基因组水平微缺失／微重复检测，并复习文献比较相似基因型Currarino综合征患者的临床表型。结果纳入2例Currarino综合征患者。例1，女，7d，因“反复呕吐”就诊，入院查体发现患者面容特殊，足月小样儿，视不追物，腹部胀气严重；患儿肛门狭窄，肠道造影提示中肠旋转不良；心脏彩超提示卵圆孔未闭或房间隔缺损；头颅超声提示颅内出血，骶尾椎磁共振成像（MRI）示脊髓栓系，骶尾椎发育畸形；染色体芯片技术检测发现7号染色体q36．1q36．3区域缺失1个拷贝（7．89Mb），14q32．33区域重复1个拷贝（2．20Mb）；患儿父母该区域未见异常。例2，女，1岁3个月，因“整体发育落后”就诊；患儿面容特殊，右眼上睑下垂，语言、运动均落后，肛门狭窄，MRI示隐性脊柱裂；染色体芯片技术检测发现7号染色体q35q36．3区域缺失1个拷贝（15．00Mb）。文献复习：MNXl基因所在的染色体区域缺失导致的Currarino综合征存在特殊面容、智力障碍及生长落后的特征，国内未见该类型的报道。结论在国内首次报道了2例因染色体微缺失导致的Currarino综合征，丰富了临床医师对该病的认识。
Objective To investigate the clinical manifestations and motor neuron and pancreas homeobox 1 （ MNX1 ） gene mutation features of Currarino syndrome. Methods Mierodeletion and microduplication of the patients were detected by chromosomal microarray analysis （ CMA ） , and literature review was performed for the clinical syn-drome of Currarino syndrome with similar genotype. Results Two patients with Currarino syndrome were recruited in this study. Patient 1, a 7 - day girl, came to hospital because of recurrent vomiting. Physical examinations showed coarse facial features, vision problems, serious abdominal flatulence and anal stenosis. Bowel imaging revealed malrotation of the midgut ; and the magnetic resonance imaging （MRI） showed tethered spinal cord and malformation of sacroeoccygeal vertebra. A 7.89 Mb deletion in chromosome 7 q36. lq36.3 region including MNX1 gene and a 2.20 Mb duplication in 14q32.33 area was found by using CMA. Patient 2, a 1 year and 3 months girl, came to hospital with global development delay. Clinical examination showed facial dysmorphic, growth retardation, intellectural disability, ptosis in right eye and anal stenosis. This patient had developmental retardation in language and movement. MRI showed spina bifida oecuha. And a 15.00 Mb deletion in chromosome 7 q35q36.3 region was found including MNX1 gene. Literature review re-vealed that deletions in MNX1 gene led to Currarino syndrome with coarse facial features, growth retardation and inte-llectural disability, and this type of Currarino syndrome had not been reported in China. Conclusions Two cases of Currarino syndrome caused by microdeletion in 7q36 are reported for the first time in China, and this study can help clinicians to have a better understanding of this disease.
作者
赵培伟
林俊
曾凌空
高丹
黄玉凤
蔡晓楠
何学莲
Zhao Peiwei;Lin Jun;Zeng Lingkong;Gao Dan;Huang Yufeng;Cai Xiaonan;He Xuelian(Clinical Research Center,Wuhan Children＇s Hospital,Tong]i Medical College,Huazhong University of Science ＆ Techm~-logy,Wuhan 430016,China（Zhao PW,Hnang YF,Cai XN,He XL;Department of Rehabilitation,Wuhan Children＇s Hospital,Tong]i Medical College,Huazhong University of Science ＆ Technology,Wuhan 430016,China（Lin J,Gao D;Department of Neonatology,Wuhan Children＇s Hospital,Tong]i Medical College,Huazhong University of Science ＆ Tech-nology,Wuhan 430016,China（Zeng LK)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2018年第20期1564-1567,共4页
Chinese Journal of Applied Clinical Pediatrics
