【摘 要】
：
目的：Floating-Harbor syndrome是一种罕见的常染色体显性遗传病,目前仅有50例被报道,以身材矮小、骨龄延迟、语言发育迟缓及特殊面容为主要临床特征,大多数患者伴轻度智力障碍.典型的面部特征包括三角脸、发际线低、眼睛深凹、长睫毛、短人中、薄嘴唇、鼻小柱悬垂等.此外,某些患者具有短指/趾、杵状指、第五指弯曲及高音等临床特征,男性患者常伴有隐睾.本研究对1例生长发育迟缓(-7SD)、
【机 构】
：
广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁,530003
论文部分内容阅读
目的：Floating-Harbor syndrome是一种罕见的常染色体显性遗传病,目前仅有50例被报道,以身材矮小、骨龄延迟、语言发育迟缓及特殊面容为主要临床特征,大多数患者伴轻度智力障碍.典型的面部特征包括三角脸、发际线低、眼睛深凹、长睫毛、短人中、薄嘴唇、鼻小柱悬垂等.此外,某些患者具有短指/趾、杵状指、第五指弯曲及高音等临床特征,男性患者常伴有隐睾.本研究对1例生长发育迟缓(-7SD)、语言发育落后及小头畸形的患者进行遗传学分析,以明确其致病突变,指导临床治疗及改善预后.方法：收集患者临床资料,签署知情同意,采集患者外周血样本并抽提gDNA.首先利用染色体核型及SNP-Array芯片(Illumina,HumanCytoSNP-12v2.1)技术排除了患者染色体和基因拷贝数变异,之后利用SureSelect全外显子组捕获试剂盒(Agilent)进行捕获,hiseq2000测序平台(Illumina)进行高通量测序.后期通过生物信息学分析确定候选致病突变进行Sanger测序验证.结果：患者SRCAP基因Sanger测序验证存在c.7303C＞T(p.Arg2435Ter)杂合突变,父母未见该突变,提示该突变为新发突变,已有文献和数据库报道该突变为致病性突变.结论：本研究利用全外显子测序技术成功对一临床诊断不明确的家系进行了基因诊断,明确了其致病突变,同时也证明了全外显子组测序技术是罕见综合征基因诊断的有力工具.
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