Zhou Xinlong, Wang Qingming, Liu Yanhui, Liu Jianxin, Yuan Haiming
Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong 523120, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):63-66. doi: 10.3760/cma.j.cn511374-20191120-00594.
To explore the genotype-phenotype correlation of a case with Sifrim-Hitz-Weiss syndrome (SIHIWES) caused by a novel CHD4 gene variant.
Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Whole-exome sequencing (WES) was carried out for the patient.Suspected variant was verified by Sanger sequencing.
The proband, a 2-year-old Chinese girl, presented with global developmental delay, intellectual disability, distinctive facial features and multiple congenital anomalies. Her prenatal manifestations included increased nuchal thickness, cranial and facial anomalies, and decreased fetal movement. WES has identified a novel variant in the CHD4 gene, namely NM_001273:c.2989C>G (p.Leu997Val) (GRCh37/hg19).Comparison of her phenotype with previously reported SIHIWES cases suggested that our patient's prenatal presentations were unreported before, with novel features including funduscopic anomaly, facial dysmorphisms such as asymmetrical ears, drooping eyelid, long philtrum and downturned mouth.
Above findings have expanded the mutational spectrum of the CHD4 gene and revealed novel phenotypes in Chinese patients with SIHIWES.
探讨由一种新型CHD4基因变异引起的西夫里姆 - 希茨 - 魏斯综合征（SIHIWES）病例的基因型 - 表型相关性。
从患者及其父母的外周血样本中提取基因组DNA。对患者进行全外显子组测序（WES）。通过桑格测序验证疑似变异。
先证者是一名2岁中国女孩，表现为全面发育迟缓、智力残疾、独特的面部特征和多种先天性异常。她的产前表现包括颈部厚度增加、颅面异常和胎动减少。WES在CHD4基因中鉴定出一种新型变异，即NM_001273:c.2989C>G（p.Leu997Val）（GRCh37/hg19）。将她的表型与先前报道的SIHIWES病例进行比较表明，我们患者的产前表现以前未被报道过，具有新特征，包括眼底异常、面部畸形，如耳朵不对称、眼睑下垂、人中长和嘴角下垂。
上述发现扩展了CHD4基因的突变谱，并揭示了中国SIHIWES患者的新表型。
