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首页> 外文期刊>American journal of medical genetics, Part A >Parental mosaicism in de novo neurodevelopmental diseases
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Parental mosaicism in de novo neurodevelopmental diseases

机译：父母的马赛主义在Novo Neurodevelopmentals疾病中

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摘要

Neurodevelopmental diseases are increasingly recognized to be caused by "de novo" variants with the expanding use of next-generation sequencing. The apparent de novo variants may actually be low-level hereditary parental mosaic variants, which could increase the recurrence risk of disease by >50% and is thought to be an underappreciated cause of neurodevelopmental diseases. Our study aimed to investigate the frequency of parental mosaicism in "de novo" neurodevelopmental diseases. A total of 237 patients (and parents) with neurodevelopmental diseases carrying apparent de novo pathogenic or likely pathogenic variants were recruited consecutively. Deep next-generation sequencing was performed on parental samples to identify parental mosaicism. Fourteen parental disease-causing mosaicism variants (3.0%) in 11 genes were detected with alternate allele frequency (AAF) 0.22%-34%. Three parents showed milder clinical phenotypes than their offspring with relatively high AAF (23.33%, 25%, 34% separately). One recurrent variant was identified prenatally. A review of cohort study on parental mosaicism in neurodevelopmental diseases was performed. Our study highlights that identifying the parental mosaic disease-causing variants especially the low-level mosaicism will contribute to improving the accuracy of genetic counseling and prenatal diagnosis for reproductive risks.
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    Shu Li; Zhang Qianjun; Tian Qi; Yang Sai; Peng Xingwang; Mao Xiao; Yang Liming; Du Juan; Wang Hua;

  • 作者单位

    Maternal &

    Child Hlth Hosp Hunan Prov Dept Med Genet Changsha 410008 Peoples R China;

    Cent South Univ Sch Basic Med Sci Inst Reprod &

    Stem Cell Engn Changsha 410078 Peoples R China;

    Maternal &

    Child Hlth Hosp Hunan Prov Dept Med Genet Changsha 410008 Peoples R China;

    Childrens Hosp Hunan Prov Dept Neurol Changsha 410008 Peoples R China;

    AmCare Genom Lab Mkt Management Ctr Guangzhou Peoples R China;

    Maternal &

    Child Hlth Hosp Hunan Prov Dept Med Genet Changsha 410008 Peoples R China;

    Childrens Hosp Hunan Prov Dept Neurol Changsha 410008 Peoples R China;

    Cent South Univ Sch Basic Med Sci Inst Reprod &

    Stem Cell Engn Changsha 410078 Peoples R China;

    Maternal &

    Child Hlth Hosp Hunan Prov Dept Med Genet Changsha 410008 Peoples R China;

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  • 正文语种 eng
  • 中图分类 医学遗传学;
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