Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system
Whole exome sequencing (WES) could yield diagnostic significance in the prenatal diagnosis of skeletal abnormalities. But the phenotypes of fetuses with skeletal abnormalities are heterogenous, and the clinical information we could obtain from an ongoing pregnancy is limited, making the prenatal dia...
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| Veröffentlicht in: | Molecular genetics and genomics : MGG 2022-07, Vol.297 (4), p.1017-1026 |
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| description | Whole exome sequencing (WES) could yield diagnostic significance in the prenatal diagnosis of skeletal abnormalities. But the phenotypes of fetuses with skeletal abnormalities are heterogenous, and the clinical information we could obtain from an ongoing pregnancy is limited, making the prenatal diagnosis complicated. Therefore, the following interpretation and genetic counseling remain a challenge for clinicians. The aim of this study is to present and investigate the utility of trio-based WES in five fetuses with skeletal anomalies. Five trios with fetal ultrasonic skeletal anomalies were recruited in our study. Fetal specimens and parental peripheral blood were subjected to WES. The fetal skeletal abnormalities were presented through ultrasound scanning images. Fetal WES results showed variants in the
PPIB
,
CHST3
,
COL1A1
, and
FGFR3
genes in the five trios. Inherited variants were found in two of the trios, while de novo variants were observed in three of them. Two novel compound heterozygous variants (c.437C > A and c.1044C > G) in
CHST3
were identified. We presented five trios with fetal skeletal anomalies, found two novel variants and broadened the spectrum of variants associated with skeletal abnormalities, which would help the establishment of genotype–phenotype relationship in the prenatal setting. Trio-based WES could assist the prenatal diagnosis and genetic counseling of fetuses with skeletal abnormalities. |
| doi_str_mv | 10.1007/s00438-022-01899-x |
| format | Article |
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PPIB
,
CHST3
,
COL1A1
, and
FGFR3
genes in the five trios. Inherited variants were found in two of the trios, while de novo variants were observed in three of them. Two novel compound heterozygous variants (c.437C > A and c.1044C > G) in
CHST3
were identified. We presented five trios with fetal skeletal anomalies, found two novel variants and broadened the spectrum of variants associated with skeletal abnormalities, which would help the establishment of genotype–phenotype relationship in the prenatal setting. Trio-based WES could assist the prenatal diagnosis and genetic counseling of fetuses with skeletal abnormalities.</description><identifier>ISSN: 1617-4615</identifier><identifier>EISSN: 1617-4623</identifier><identifier>DOI: 10.1007/s00438-022-01899-x</identifier><identifier>PMID: 35583673</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Animal Genetics and Genomics ; Biochemistry ; Biomedical and Life Sciences ; blood ; Collagen (type I) ; Fetuses ; fibroblast growth factor receptor 3 ; Fibroblast growth factor receptors ; Genetic counseling ; genomics ; genotype-phenotype correlation ; Genotypes ; heterozygosity ; Human Genetics ; Life Sciences ; Microbial Genetics and Genomics ; musculoskeletal system ; Original Article ; Peripheral blood ; Phenotypes ; Plant Genetics and Genomics ; pregnancy ; Prenatal diagnosis ; ultrasonics</subject><ispartof>Molecular genetics and genomics : MGG, 2022-07, Vol.297 (4), p.1017-1026</ispartof><rights>The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022</rights><rights>2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.</rights><rights>The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c338t-7a3af3eb4cbe2d7970bbae24734d22580802a7edeb2001fcbd5a6fc064008ebf3</citedby><cites>FETCH-LOGICAL-c338t-7a3af3eb4cbe2d7970bbae24734d22580802a7edeb2001fcbd5a6fc064008ebf3</cites><orcidid>0000-0002-3484-299X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00438-022-01899-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00438-022-01899-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35583673$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yang, Yang</creatorcontrib><creatorcontrib>Wang, Min</creatorcontrib><creatorcontrib>Wang, Hao</creatorcontrib><title>Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system</title><title>Molecular genetics and genomics : MGG</title><addtitle>Mol Genet Genomics</addtitle><addtitle>Mol Genet Genomics</addtitle><description>Whole exome sequencing (WES) could yield diagnostic significance in the prenatal diagnosis of skeletal abnormalities. But the phenotypes of fetuses with skeletal abnormalities are heterogenous, and the clinical information we could obtain from an ongoing pregnancy is limited, making the prenatal diagnosis complicated. Therefore, the following interpretation and genetic counseling remain a challenge for clinicians. The aim of this study is to present and investigate the utility of trio-based WES in five fetuses with skeletal anomalies. Five trios with fetal ultrasonic skeletal anomalies were recruited in our study. Fetal specimens and parental peripheral blood were subjected to WES. The fetal skeletal abnormalities were presented through ultrasound scanning images. Fetal WES results showed variants in the
PPIB
,
CHST3
,
COL1A1
, and
FGFR3
genes in the five trios. Inherited variants were found in two of the trios, while de novo variants were observed in three of them. Two novel compound heterozygous variants (c.437C > A and c.1044C > G) in
CHST3
were identified. We presented five trios with fetal skeletal anomalies, found two novel variants and broadened the spectrum of variants associated with skeletal abnormalities, which would help the establishment of genotype–phenotype relationship in the prenatal setting. Trio-based WES could assist the prenatal diagnosis and genetic counseling of fetuses with skeletal abnormalities.</description><subject>Animal Genetics and Genomics</subject><subject>Biochemistry</subject><subject>Biomedical and Life Sciences</subject><subject>blood</subject><subject>Collagen (type I)</subject><subject>Fetuses</subject><subject>fibroblast growth factor receptor 3</subject><subject>Fibroblast growth factor receptors</subject><subject>Genetic counseling</subject><subject>genomics</subject><subject>genotype-phenotype correlation</subject><subject>Genotypes</subject><subject>heterozygosity</subject><subject>Human Genetics</subject><subject>Life Sciences</subject><subject>Microbial Genetics and Genomics</subject><subject>musculoskeletal system</subject><subject>Original Article</subject><subject>Peripheral blood</subject><subject>Phenotypes</subject><subject>Plant Genetics and Genomics</subject><subject>pregnancy</subject><subject>Prenatal diagnosis</subject><subject>ultrasonics</subject><issn>1617-4615</issn><issn>1617-4623</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNqFkcFO3DAQhi1U1IVtX4ADstQLl5SxndjeY4VaQFqpPcDZspMJG0jire1ol7fHsNtF6qE9eeT55rdHHyFnDL4yAHUZAUqhC-C8AKYXi2J7RE6YZKooJRcfDjWrZuQ0xkcApiRXH8lMVJUWUokTYn4FHG2yPU2h84WzERu6WfkeKW79gDTi7wnHuhsfaDfSFtMUMdJNl1bUutGHwfZd6vKVb2laZf4Je3zNi88x4fCJHLe2j_h5f87J_Y_vd1c3xfLn9e3Vt2VRC6FToaywrUBX1g55oxYKnLPISyXKhvNKgwZuFTboeN6irV1TWdnWIEsAja4Vc3Kxy10Hnz8ckxm6WGPf2xH9FA1XTHOt2IL_H5VSVqXWHDL65S_00U9hzItkSosKuGY6U3xH1cHHGLA169ANNjwbBubVlNmZMtmUeTNltnnofB89uQGbw8gfNRkQOyDm1viA4f3tf8S-AIohn9k</recordid><startdate>20220701</startdate><enddate>20220701</enddate><creator>Yang, Yang</creator><creator>Wang, Min</creator><creator>Wang, Hao</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7SS</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope><scope>7S9</scope><scope>L.6</scope><orcidid>https://orcid.org/0000-0002-3484-299X</orcidid></search><sort><creationdate>20220701</creationdate><title>Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system</title><author>Yang, Yang ; Wang, Min ; Wang, Hao</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c338t-7a3af3eb4cbe2d7970bbae24734d22580802a7edeb2001fcbd5a6fc064008ebf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Animal Genetics and Genomics</topic><topic>Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>blood</topic><topic>Collagen (type I)</topic><topic>Fetuses</topic><topic>fibroblast growth factor receptor 3</topic><topic>Fibroblast growth factor receptors</topic><topic>Genetic counseling</topic><topic>genomics</topic><topic>genotype-phenotype correlation</topic><topic>Genotypes</topic><topic>heterozygosity</topic><topic>Human Genetics</topic><topic>Life Sciences</topic><topic>Microbial Genetics and Genomics</topic><topic>musculoskeletal system</topic><topic>Original Article</topic><topic>Peripheral blood</topic><topic>Phenotypes</topic><topic>Plant Genetics and Genomics</topic><topic>pregnancy</topic><topic>Prenatal diagnosis</topic><topic>ultrasonics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yang, Yang</creatorcontrib><creatorcontrib>Wang, Min</creatorcontrib><creatorcontrib>Wang, Hao</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>AGRICOLA</collection><collection>AGRICOLA - Academic</collection><jtitle>Molecular genetics and genomics : MGG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yang, Yang</au><au>Wang, Min</au><au>Wang, Hao</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system</atitle><jtitle>Molecular genetics and genomics : MGG</jtitle><stitle>Mol Genet Genomics</stitle><addtitle>Mol Genet Genomics</addtitle><date>2022-07-01</date><risdate>2022</risdate><volume>297</volume><issue>4</issue><spage>1017</spage><epage>1026</epage><pages>1017-1026</pages><issn>1617-4615</issn><eissn>1617-4623</eissn><abstract>Whole exome sequencing (WES) could yield diagnostic significance in the prenatal diagnosis of skeletal abnormalities. But the phenotypes of fetuses with skeletal abnormalities are heterogenous, and the clinical information we could obtain from an ongoing pregnancy is limited, making the prenatal diagnosis complicated. Therefore, the following interpretation and genetic counseling remain a challenge for clinicians. The aim of this study is to present and investigate the utility of trio-based WES in five fetuses with skeletal anomalies. Five trios with fetal ultrasonic skeletal anomalies were recruited in our study. Fetal specimens and parental peripheral blood were subjected to WES. The fetal skeletal abnormalities were presented through ultrasound scanning images. Fetal WES results showed variants in the
PPIB
,
CHST3
,
COL1A1
, and
FGFR3
genes in the five trios. Inherited variants were found in two of the trios, while de novo variants were observed in three of them. Two novel compound heterozygous variants (c.437C > A and c.1044C > G) in
CHST3
were identified. We presented five trios with fetal skeletal anomalies, found two novel variants and broadened the spectrum of variants associated with skeletal abnormalities, which would help the establishment of genotype–phenotype relationship in the prenatal setting. Trio-based WES could assist the prenatal diagnosis and genetic counseling of fetuses with skeletal abnormalities.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>35583673</pmid><doi>10.1007/s00438-022-01899-x</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0002-3484-299X</orcidid></addata></record> |
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| ispartof | Molecular genetics and genomics : MGG, 2022-07, Vol.297 (4), p.1017-1026 |
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| source | Springer Nature - Complete Springer Journals |
| subjects | Animal Genetics and Genomics Biochemistry Biomedical and Life Sciences blood Collagen (type I) Fetuses fibroblast growth factor receptor 3 Fibroblast growth factor receptors Genetic counseling genomics genotype-phenotype correlation Genotypes heterozygosity Human Genetics Life Sciences Microbial Genetics and Genomics musculoskeletal system Original Article Peripheral blood Phenotypes Plant Genetics and Genomics pregnancy Prenatal diagnosis ultrasonics |
| title | Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system |
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