Xu Yan-Ping, Shi Li-Ping, Zhu Jiajun
NICU, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310053, China.
Department of Neonatology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, China.
BMC Pediatr. 2018 Jun 26;18(1):203. doi: 10.1186/s12887-018-1181-0.
CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7, which has been estimated to occur in 1:10,000 births worldwide. It is a genetic disorder closely resembles other pattern of anomalies. Genetic testing should be pointed out as a useful method for clinical diagnosis.
A female infant was the second child born to a 33-year-old, gravida 3, para 2 mother. The infant was born at 37 + 4 weeks of gestation with a birth weight of 2440 g (- 1.1 S.D.). Clinical examination showed atypical CHARGE syndrome, with choanal atresia, a heart defect, and sensorineural deafness. Genomic DNA was extracted from peripheral venous blood sample using molecular biological technique. We used the Illumina TruSigt One sequencing panel on the MiSeq next- generation sequencing (NGS) platform for mutation screening and found a novel frameshift mutation in chromodomain helicase DNA binding protein 7 (CHD7; c.4656dupT). This mutation results in a new reading frame ending in p.(Ile1553fs). At the first month of age, the patient had a posterior nostril plasty operation by nasal endoscope. At the second month of age, she had patent ductus arteriosus ligation surgery. At the 4th month of age, she was discharged from the hospital.
Our findings further reveal that patients should not be rejected for CHD7 mutational analysis even if they do not fulfill CHARGE syndrome Verloes criteria.
CHARGE综合征是一种常染色体显性遗传的畸形疾病，由染色质重塑因子CHD7的杂合功能丧失突变引起，据估计在全球每10000例出生中发生1例。它是一种与其他异常模式密切相似的遗传疾病。基因检测应被视为临床诊断的一种有用方法。
一名女婴是一位33岁、孕3产2的母亲所生的第二个孩子。婴儿在妊娠37 + 4周时出生，出生体重2440克（-1.1标准差）。临床检查显示为非典型CHARGE综合征，伴有后鼻孔闭锁、心脏缺陷和感音神经性耳聋。使用分子生物学技术从外周静脉血样本中提取基因组DNA。我们在MiSeq下一代测序（NGS）平台上使用Illumina TruSigt One测序板进行突变筛查，在染色质结构域解旋酶DNA结合蛋白7（CHD7；c.4656dupT）中发现了一个新的移码突变。该突变导致一个新的阅读框，终止于p.(Ile1553fs)。在1月龄时，患者通过鼻内镜进行了后鼻孔成形术。在2月龄时，她接受了动脉导管未闭结扎手术。在4月龄时，她出院了。
我们的研究结果进一步表明，即使患者不符合CHARGE综合征Verloes标准，也不应拒绝进行CHD7突变分析。
