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.
Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct;22(10):1135-1137. doi: 10.7499/j.issn.1008-8830.2005168.
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 whole-exome 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.
一名1个月大的男婴因喂养困难和肌张力减退入院。他有特殊面容（前额突出、眼距增宽、外眦下垂、上唇薄、耳低位）、肌张力减退，新生儿行为神经评估评分降低。心脏超声显示房间隔缺损。头颅磁共振成像显示幕上脑室、脑池和蛛网膜下腔增宽。对该男婴进行高通量全外显子测序，在CCDC22基因中检测到一个半合子突变c.315_320delTGAGCG，该突变来自其母亲，而在其父亲中未发现此突变。该男婴的特殊面容、临床表现及遗传模式与国外报道的里切尔 - 申策尔综合征表现相符。本文首次报道了中国人群中由CCDC22基因半合子突变c.315_320delTGAGCG引起的X连锁隐性里切尔 - 申策尔综合征病例。
