KAT6B变异致SBBYSS综合征一例
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2019）
Abstract
目的 分析1例SBBYSS综合征患儿的临床及分子遗传学特点,为家系的遗传咨询及产前诊断提供依据.方法 应用二代测序方法对患儿进行全基因组拷贝数变异(copy number variation,CNV)及全外显子组测序分析,并用Sanger测序法进行验证及亲源分析.结果 全基因组CNV检测未见明确致病变异;全外显子组测序分析结果显示患儿的KAT6B第16外显子存在c.3367_c.3370delAGAA(p.Arg1123Argfs?6)杂合移码变异,患儿父母未检测到该变异,该变异为新发变异(de novo).结论 KAT6B第16外显子c.3367_c.3370delAGAA(p.Arg1123Argfs?6)杂合移码变异可能为患儿的致病原因,测序结果为家系的遗传咨询及产前诊断提供依据.
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Key words
Say-Barber-Biesecker-Young-Simpson syndrome,Developmental delay,KAT6B gene,Genetic variant
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