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Copy number variation in fetal alcohol spectrum disorder

机译：胎儿酒精谱系障碍的复制数变异

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摘要

Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2.5 SNP (single nucleotide polymorphisms) array platform. We compared their CNVs with those of 10?851 population controls to identify rare CNVs ( CACNA1H involved in epilepsy and autism, the 3q29 deletion disorder, and others. Our results show that a subset of children diagnosed with FASD have chromosomal deletions and duplications that may co-occur or explain the neurodevelopmental impairments in a diagnosed cohort of FASD individuals. Children suspected to have FASD with or without sentinel facial features of fetal alcohol syndrome and neurodevelopmental delays should potentially be evaluated by a clinical geneticist and possibly have genetic investigations as appropriate to exclude other etiologies.
机译：胎儿酒精谱系障碍（FASD）的特征是神经系统，发育和先天性缺陷的组合，其可能因产前酒精暴露而发生。早期的报告显示，大型染色体异常可能与FASD联系起来。在这里，我们检查了先前在加拿大跨地网站上的多学科FASD团队诊断的FASD案件中的拷贝数变异（CNV）的普及和类型。我们将95例FASD和87岁儿童进行了基因分为95例，通常在Illumina人OMNI2.5 SNP（单核苷酸多态性）阵列平台上进行对照。我们将其CNV与10？851种群对照的比较，以鉴定罕见的CNVS（CaCna1h参与癫痫和自闭症，3Q29缺失障碍等。我们的结果表明，诊断出FasD的儿童子集具有染色体缺失和可重复共同发生或解释诊断的FASD群体中的神经发育损伤。儿童怀疑有或没有胎儿酒精综合征和神经发育延迟的哨兵面部特征和神经发育延迟的患者可能会被临床遗传学家评估，并且可能有适当的遗传调查排除其他病因。

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  • 来源
    《Biochemistry and Cell Biology》 |2018年第2期|共6页
  • 作者

    Mehdi Zarrei; Geoffrey G. Hicks; James N. Reynolds; Bhooma Thiruvahindrapuram; Worrawat Engchuan; Molly Pind; Sylvia Lamoureux; John Wei; Zhouzhi Wang; Christian R. Marshall; Richard F. Wintle; Albert E. Chudley; Stephen W. Scherer;

  • 作者单位

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

    Regenerative Medicine Program Max Rady College of Medicine Rady Faculty of Health Sciences;

    Centre for Neuroscience Studies Queen’s University Kingston ON K7L 3N6 Canada.;

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

    Regenerative Medicine Program Max Rady College of Medicine Rady Faculty of Health Sciences;

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

    Department of Pediatrics and Child Health Max Rady College of Medicine Rady Faculty of Health;

    The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 生物化学;
  • 关键词

    fetal alcohol spectrum disorder; FASD; copy number variations; CNV;

    机译：胎儿酒精谱紊乱;FASD;拷贝数变异;CNV;

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