Wang Jieqiong, Xia Yanjie, Wang Yanan, Yang Fan, Kong Xiangdong
Department of Genetics, Luoyang Maternal and Child Health Care Center, Luoyang, Henan 471000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 May 10;37(5):497-500. doi: 10.3760/cma.j.issn.1003-9406.2020.05.001.
To detect pathological variant in a Chinese pedigree affected with congenital contractural arachnodactyly (CCA).
Next generation sequencing (NGS) was used to scan the whole exome of the proband. Potential variant of the FBN2 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. With the determination of the genotype, prenatal diagnosis was carried out by amniotic fluid sampling.
A c.3528C>A (p.Asn1176Lys) variant was identified in the FBN2 gene of the proband, other patients from this pedigree, as well as the fetus. The same variant was not found among healthy members from this pedigree and the 100 healthy controls.
The c.3528C>A (p.Asn1176Lys) variant of the FBN2 gene probably underlies the pathogenesis of CCA in our case. The new variant has enriched pathological spectrum of the FBN2 gene.
检测一个患有先天性挛缩性蜘蛛指（CCA）的中国家系中的致病变异。
采用二代测序（NGS）技术对先证者的全外显子组进行扫描。通过桑格测序法在该家系所有成员及100名健康对照中检测FBN2基因的潜在变异。确定基因型后，通过羊水取样进行产前诊断。
在先证者、该家系的其他患者以及胎儿的FBN2基因中鉴定出一个c.3528C>A（p.Asn1176Lys）变异。在该家系的健康成员及100名健康对照中未发现相同变异。
在我们的病例中，FBN2基因的c.3528C>A（p.Asn1176Lys）变异可能是CCA发病机制的基础。该新变异丰富了FBN2基因的致病谱。
