PDF(Pubmed)
Abstract：
UNASSIGNED: Helsmoortel-van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features. It is caused by heterozygous mutations in the ADNP gene on chromosome 20q13. Most of the genetic causes of Helsmoortel-van der Aa syndrome have been reported are as de novo nonsense or frameshift stop mutations in exon 5 of ADNP gene, while fewer truncating variants were discovered in exons 4 and the 5\' end of exon 5.
UNASSIGNED: In our study, a 4-year-old female Chinese patient was reported with delayed psychomotor development, language impairment, ataxia, anxiety, aggressive behavior, and congenital heart defect. Trio whole exome sequencing and copy number variation sequencing were performed.
UNASSIGNED: A novel de novo heterozygous pathogenic mutation c.568C > T (p.Gln190Ter) was identified in the ADNP gene of the proband. His unaffected parents did not have the variant. According to the American College of Medical Genetics (ACMG) guidelines, c.568C > T was classified as \"pathogenic\".
UNASSIGNED: Our report indicated that c.568C > T (p.Gln190Ter) in ADNP gene is the cause of abnormal development of the nervous system, congenital heart disease and strabismus, broadening the spectrum of ADNP gene mutations associated with Helsmoortel-van der Aa syndrome.
UNASSIGNED: In our study, a 4-year-old female Chinese patient was reported with delayed psychomotor development, language impairment, ataxia, anxiety, aggressive behavior, and congenital heart defect. Trio whole exome sequencing and copy number variation sequencing were performed.
UNASSIGNED: A novel de novo heterozygous pathogenic mutation c.568C > T (p.Gln190Ter) was identified in the ADNP gene of the proband. His unaffected parents did not have the variant. According to the American College of Medical Genetics (ACMG) guidelines, c.568C > T was classified as \"pathogenic\".
UNASSIGNED: Our report indicated that c.568C > T (p.Gln190Ter) in ADNP gene is the cause of abnormal development of the nervous system, congenital heart disease and strabismus, broadening the spectrum of ADNP gene mutations associated with Helsmoortel-van der Aa syndrome.
摘要：
■Helsmoortel-vanderAa综合征，也被称为ADNP综合征，是导致发育迟缓的一种情况，语言障碍，自闭症谱系，和可变的神经外逻辑功能。它是由染色体20q13上的ADNP基因中的杂合突变引起的。据报道，Helsmoortel-vanderAa综合征的大多数遗传原因是ADNP基因外显子5的从头无意义或移码停止突变，而在外显子4和外显子5的5'末端发现的截短变体较少。
■在我们的研究中，据报道，一名4岁的中国女性患者精神运动发育迟缓，语言障碍，共济失调,焦虑,攻击性行为,先天性心脏病.进行三联全外显子组测序和拷贝数变异测序。
■一种新的从头杂合致病突变c.568C>T（p。Gln190Ter）在先证者的ADNP基因中鉴定。他不受影响的父母没有变种。根据美国医学遗传学学院（ACMG）的指南，c.568C>T被归类为“致病性”。
■我们的报告表明c.568C>T（p。ADNP基因中的Gln190Ter）是神经系统发育异常的病因，先天性心脏病和斜视,扩大与Helsmoortel-vanderAa综合征相关的ADNP基因突变谱。
■在我们的研究中，据报道，一名4岁的中国女性患者精神运动发育迟缓，语言障碍，共济失调,焦虑,攻击性行为,先天性心脏病.进行三联全外显子组测序和拷贝数变异测序。
■一种新的从头杂合致病突变c.568C>T（p。Gln190Ter）在先证者的ADNP基因中鉴定。他不受影响的父母没有变种。根据美国医学遗传学学院（ACMG）的指南，c.568C>T被归类为“致病性”。
■我们的报告表明c.568C>T（p。ADNP基因中的Gln190Ter）是神经系统发育异常的病因，先天性心脏病和斜视,扩大与Helsmoortel-vanderAa综合征相关的ADNP基因突变谱。
