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全外显子组测序有助于胎儿骨骼发育异常的诊断。

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.

作者信息

Tang Hui, Zhang Qin, Xiang Jingjing, Yin Linliang, Wang Jing, Wang Ting

机构信息

Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.

Center for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, China.

出版信息

Front Genet. 2021 Mar 10;12:599863. doi: 10.3389/fgene.2021.599863. eCollection 2021.

DOI:10.3389/fgene.2021.599863
PMID:33777089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7987927/
Abstract

Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to make a molecular diagnosis rapidly. In this study, the genetic cause of 16 Chinese fetuses with skeletal dysplasia were analyzed, and 12 cases yielded positive results including one deletion in gene detected by SNP-array and 14 variants in other 6 genes detected by whole exome sequencing (WES). In addition, somatic mosaicism was observed. Our study expanded the pathogenic variant spectrum and elucidated the utilization of WES in improving the diagnosis yield of skeletal dysplasia.

摘要

骨骼发育异常是一组复杂的骨和软骨疾病，具有很强的临床和遗传异质性。几种类型具有产前表型，难以快速做出分子诊断。在本研究中，分析了16例中国骨骼发育异常胎儿的遗传病因，12例获得阳性结果，包括通过单核苷酸多态性阵列检测到一个基因缺失，以及通过全外显子组测序（WES）在其他6个基因中检测到14个变异。此外，还观察到体细胞镶嵌现象。我们的研究扩展了致病变异体谱，并阐明了WES在提高骨骼发育异常诊断率方面的应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fa5/7987927/a8839784cc8c/fgene-12-599863-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fa5/7987927/04d91c158264/fgene-12-599863-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fa5/7987927/a8839784cc8c/fgene-12-599863-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fa5/7987927/04d91c158264/fgene-12-599863-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fa5/7987927/a8839784cc8c/fgene-12-599863-g0002.jpg

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Orphanet J Rare Dis. 2023 Oct 25;18(1):336. doi: 10.1186/s13023-023-02955-4.
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Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review.超声检查具有骨骼发育不良特征但核型或染色体微阵列分析正常的胎儿中外显子组测序的诊断效果：系统评价。
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