摘要目的 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.

abstractsObjective To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).Methods High-throughput sequencing was used to detect copy number variations (CNVs)and pathogenic variant within the whole exome of the affected child.Results No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs ? 6 )frameshifting variant in the exon 16 of the KAT6B gene.The same variant was not found in either parent.Conclusion The c.3367_c.3370delAGAA (p.R1123Rfs?6)probably underlies the disease in the affected child.Above finding has facilitated genetic counseling and prenatal diagnosis for the family.