通过靶向 NGS 鉴定一个中国遗传性晶状体异位家系 FBN1 中的一个新突变。
Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS.
机构信息
Aier School of Ophthalmology, Central South University, Tianxin District, Changsha, Hunan Province 410015, China; WuhanAier Eye Hospital, Aier Eye Hospital Group, Wuchang District, Wuhan, Hubei Province 430063, China.
Department of Ophthalmology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, NO. 600, Yishan Road, Xuhui District, Shanghai 200233, China.
出版信息
Gene. 2019 Mar 20;689:51-55. doi: 10.1016/j.gene.2018.12.005. Epub 2018 Dec 12.
AIMS
To diagnose a Chinese family with inherited ectopia lentis in a genetic method and analyze the genotype-phenotype correlation.
METHODS
The phenotype of each family member was identified by detailed clinical examination. We used targeted next generation sequencing (NGS) to identify mutations in FBN1 in an efficient and accurate way. The mutation in FBN1 was confirmed in all affected family members by Sanger sequencing.
RESULTS
A novel mutation c.385T>C (p.C129R) in FBN1 was identified in the proband by targeted NGS. The mutation was segregated in all affected family members and contributes to specific disease phenotypes. The same mutation was not found in other unaffected relatives and a 100 normal random population by Sanger sequencing.
CONCLUSIONS
Our study reports a novel mutation in FBN1 in a Chinese family and to diagnose this family as Marfan syndrome, we also expand the genotype-phenotype correlation of this disease.
目的
采用基因方法诊断一个中国遗传性晶状体异位家系，并分析基因型-表型相关性。
方法
通过详细的临床检查确定每个家族成员的表型。我们采用靶向二代测序（NGS）高效且准确地鉴定 FBN1 中的突变。通过 Sanger 测序在所有受影响的家族成员中证实 FBN1 中的突变。
结果
通过靶向 NGS 在先证者中鉴定出 FBN1 中的一个新突变 c.385T>C(p.C129R)。该突变在所有受影响的家族成员中发生遗传，并导致特定的疾病表型。通过 Sanger 测序在其他未受影响的亲属和 100 名正常随机人群中未发现相同的突变。
结论
本研究在中国一个家系中报道了 FBN1 的一个新突变，并将该家系诊断为马凡综合征，我们还扩展了该疾病的基因型-表型相关性。
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