摘要
患儿,男,1月龄,因喂养困难、肌张力低下就诊,体检发现前额突出,眼距宽,外眦下斜,上唇薄,耳位低,肌张力低下。新生儿神经行为测定示29分,心脏B超示房间隔缺损,头颅MRI示幕上脑室、脑池、蛛网膜下腔增宽。患儿全外显子组测序检测出CCDC22基因c.315_320delTGAGCG半合子变异,变异来自母亲,父亲未发现该基因变异。该患儿的特殊面容、临床表现及遗传方式与国外报道Ritscher-Schinzel综合征表现相一致。该研究首次报道了1例中国人CCDC22基因c.315_320delTGAGCG半合子变异导致X连锁隐性遗传的Ritscher-Schinzel综合征。
A boy,aged 1 month,attended the hospital due to feeding difficulty and hypotonia.He had unusual facial features(prominent forehead,hypertelorism,ptosis of the lateral canthus,thin upper lip,and low-set ears),hypotonia,and a decreased score of neonatal behavioral neurological assessment.Heart ultrasound showed atrial septal defect.Cranial MRI showed widened supratentorial ventricle,cerebral cistern,and subarachnoid space.High-throughput wholeexome sequencing of the boy detected a hemizygous mutation,c.315_320delTGAGCG,in the CCDC22 gene,which came from his mother,while such mutation was not found in his father.The unusual facies,clinical manifestations,and inheritance pattern of this boy were consistent with the manifestations of Ritscher-Schinzel syndrome reported abroad.This is a report for the first time of a case of X-linked recessive Ritscher-Schinzel syndrome caused by the hemizygous mutation c.315_320delTGAGCG in the CCDC22 gene in Chinese population.
作者
梁燕婷
江蕙芸
付华钰
LIANG Yan-Ting;JIANG Hui-Yun;FU Hua-Yu(Department of Child Healthcare,Matermal&Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530003,China)
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2020年第10期1135-1137,共3页
Chinese Journal of Contemporary Pediatrics
作者简介
梁燕婷,女,副主任医师。Email:516145831@qq.com。
