一例SHOC2基因突变致Noonan综合征患儿的临床及基因突变分析

摘要

Objective To identify potential mutation in a child clinically diagnosed as Noonan syndrome and to provide genetic counseling and prenatal diagnosis for his family.Methods Genomic DNA was extracted from peripheral blood samples of the patient and his parents,and amniotic fluid was taken from the mother during the second trimester.Next generation sequencing (NGS) was used to screen potential mutations from genomic DNA.Suspected mutation was verified by Sanger sequencing.Results A heterozygous c.4A＞ G (p.Ser2Gly) mutation of the SHOC2 gene was identified in the patient but not among other family members including the fetus.Conclusion The Noonan syndrome is probably caused by the c.4A＞G mutation of the SHOC2 gene.NGS is helpful for the diagnosis of complicated genetic diseases.SHOC2 gene mutation screening is recommended for patient suspected for Noonan syndrome.%目的 对1例临床拟诊为Noonan综合征的患儿及其家系成员进行临床及基因突变分析.方法 收集患儿及其家系成员的外周血以及母亲的羊水标本,应用高通量测序对患儿的致病突变进行筛查,再通过Sanger测序对患儿、羊水及其父母进行验证.结果 高通量测序提示患儿SHOC2基因存在可疑致病突变,经Sanger测序验证,患儿SHOC2基因第1外显子包含已知致病突变c.4A＞G(p.Ser2Gly),其父母均未携带相同的突变.羊水产前诊断未发现胎儿携带同样的突变.结论 高通量测序有助于复杂遗传病的诊断.对于疑似Noonan综合征的患儿,建议对其SHOC2基因进行突变筛查.