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.
■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。