Analysis of clinical features andATRX gene variant in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome
董睿 1杨亚丽 2郭辉 3高敏 1律玉强 1李悦 1杨小萌 1刘毅 1李岭
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作者信息
1. 1山东大学附属儿童医院儿科研究所，济南 250022
2. 2山东大学附属儿童医院康复科，济南 250022
3. 3山东大学齐鲁儿童医院药学部，济南 250022
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摘要
目的 对1例表现为发育迟缓、特殊面容且具有阳性家族史的患儿进行临床和遗传学分析。 方法 以1例因"竖头不稳、不会翻身"于2020年就诊于山东大学附属儿童医院的患儿及其家庭作为研究对象。提取患儿及其父母及两个哥哥的基因组DNA，采用外显子区域捕获及高通量测序技术对其进行变异分析，对候选变异进行Sanger测序验证及家系分析。 结果 基因测序显示患儿及症状相似的哥哥均携带X染色体上的ATRX基因的c.5275C>A半合子变异，既往未见报道。经验证，其母亲为变异的杂合子携带者。患儿的父亲及未患病的哥哥均未携带上述变异。 结论 患儿及其患病的哥哥被确诊为罕见的X连锁α-地中海贫血精神发育迟滞综合征。c.5275C>A变异的发现丰富了ATRX基因的变异谱。 Objective To explore the clinical characteristics and genetic basis of two brothers featuring X-linked alpha thalassemia mental retardation (ATR-X) syndrome. Methods An infant who had presented at the Qilu Children′s Hospital in 2020 for unstable upright head and inability to roll over and his family were selected as the study subjects. The clinical features of the child and one of his brothers were summarized, and their genomic DNA was subjected to targeted capture and next generation sequencing (NGS). Results The brothers had presented with mental retardation and facial dysmorphisms. NGS revealed that they had both harbored a hemizygous c. 5275C>A variant of theATRX gene located on X chromosome, which was inherited from their mother. Conclusion The siblings were diagnosed with ATR-X syndrome. The discovery of the c. 5275C>A variant has enriched the mutational spectrum of theATRX gene.
Abstract
Objective To explore the clinical characteristics and genetic basis of two brothers featuring X-linked alpha thalassemia mental retardation (ATR-X) syndrome. Methods An infant who had presented at the Qilu Children′s Hospital in 2020 for unstable upright head and inability to roll over and his family were selected as the study subjects. The clinical features of the child and one of his brothers were summarized, and their genomic DNA was subjected to targeted capture and next generation sequencing (NGS). Results The brothers had presented with mental retardation and facial dysmorphisms. NGS revealed that they had both harbored a hemizygous c. 5275C>A variant of theATRX gene located on X chromosome, which was inherited from their mother. Conclusion The siblings were diagnosed with ATR-X syndrome. The discovery of the c. 5275C>A variant has enriched the mutational spectrum of theATRX gene.
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