全外显子组测序在德朗热综合征诊断中的应用

The application of whole exome sequencing in the diagnosis of Cornelia de Lange syndrome

目的探讨利用全外显子组测序技术诊断德朗热综合征以及该病的常见类型和临床特点。方法根据临床资料,采用全外显子组测序技术检测患儿并通过Sanger验证且排查父母。结果患儿,女,1天,特殊外貌,弓形眉、浓眉,鼻梁扁平而宽,手指关节畸型,全身多毛,发育落后。经检测,患儿29号外显子NIPBL基因发现c.5567G>T(编码区5567号核苷酸由G变为T)的杂合突变,Sanger技术验证了该突变,排除了父母遗传。结论德朗热综合征具有特殊的面容及体征,全外显子组测序可确诊德朗热综合征,NIPBL基因c.5567G>T属于新发突变。

Objective To explore the application of whole exome sequencing in the diagnosis of Cornelia de Lange syndrome, the gene mutation types and clinical features of Cornelia de Lange syndrome (CdLS). Methods The child was detected by whole exome sequencing based on clinical information, and the result was verified by Sanger and eliminating biparental inheritance. Results The female child have special appearance, arched and bushy eyebrows. Besides, she bore flat and wide nose bridge, deformed finger joint, hairy body , and retarded growth. The 29 exon NIPBL gene was detected to have variation of the nucleotide in c. 5567G>T (nucleotide 5567 in coding region changed from G to T). The mutation was also verified by Sanger. Conclusions The clinical manifestations of CdLs were special faces and signs. CdLS could diagnosed by whole exome sequencing. And the c.5567G>T mutation in NIPBL gene is de novo and has not been reported at home or abroad.