摘要
一名有肌张力减退、言语延迟及智力障碍的5岁患者，转诊遗传咨询后使用全外显子组测序，鉴定了一个新的AHDC1移码突变，并定义为Xia-Gibbs综合征（XGS）。此外，我们比较了文献中报道的患者的表型。全基因组外显子测序（WES）测试使得能够识别以高临床遗传异质性为特征的这种疾病的因果关系。
关键词： Xia-Gibbs综合征；AHDC1；全外显子测序
Abstract
A five years old child is characterized by developmental delay, intellectual disability and hypotonia. The whole exome sequencing (WES) test revealed a novel de novo heterozygous frameshift mutation in AHDC1, and was defined Xia-GibbsSyndrome.Butthe parents are healthy. In addition, we compared the clinical manifestations of reported patients. Whole genome exome sequencing (WES) testing enables the identification of causal relationships in this disease characterized by high clinical genetic heterogeneity.
Key words： Xia-Gibbs Syndrome; AHDC1; Whole exon sequencing
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