Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia

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...

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Autores principales: Tang, Hui, Zhang, Qin, Xiang, Jingjing, Yin, Linliang, Wang, Jing, Wang, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987927/
https://www.ncbi.nlm.nih.gov/pubmed/33777089
http://dx.doi.org/10.3389/fgene.2021.599863
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author Tang, Hui
Zhang, Qin
Xiang, Jingjing
Yin, Linliang
Wang, Jing
Wang, Ting
author_facet Tang, Hui
Zhang, Qin
Xiang, Jingjing
Yin, Linliang
Wang, Jing
Wang, Ting
author_sort Tang, Hui
collection PubMed
description 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 DMD 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.
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spelling pubmed-79879272021-03-25 Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia Tang, Hui Zhang, Qin Xiang, Jingjing Yin, Linliang Wang, Jing Wang, Ting Front Genet Genetics 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 DMD 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. Frontiers Media S.A. 2021-03-10 /pmc/articles/PMC7987927/ /pubmed/33777089 http://dx.doi.org/10.3389/fgene.2021.599863 Text en Copyright © 2021 Tang, Zhang, Xiang, Yin, Wang and Wang. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Tang, Hui
Zhang, Qin
Xiang, Jingjing
Yin, Linliang
Wang, Jing
Wang, Ting
Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
title Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
title_full Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
title_fullStr Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
title_full_unstemmed Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
title_short Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
title_sort whole exome sequencing aids the diagnosis of fetal skeletal dysplasia
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987927/
https://www.ncbi.nlm.nih.gov/pubmed/33777089
http://dx.doi.org/10.3389/fgene.2021.599863
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