X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations
Objective To predict the risk of dystrophinopathy in fetal carriers of dystrophin gene (DMD) mutations. Methods Twenty‐three pregnant women, with a total of 25 female fetuses carrying DMD mutations, were recruited. Among them, 13 pregnant women who participated in this study were only used to analys...
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| Veröffentlicht in: | Prenatal diagnosis 2019-07, Vol.39 (8), p.603-608 |
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| creator | He, Wen‐Bin Du, Juan Xie, Ping‐Yuan Zhou, Shuang Zhang, Ya‐Xin Lu, Guang‐Xiu Lin, Ge Li, Wen Tan, Yue‐Qiu |
| description | Objective
To predict the risk of dystrophinopathy in fetal carriers of dystrophin gene (DMD) mutations.
Methods
Twenty‐three pregnant women, with a total of 25 female fetuses carrying DMD mutations, were recruited. Among them, 13 pregnant women who participated in this study were only used to analyse the incidence of induced abortion after fetuses were diagnosed as dystrophinopathy carriers. Eleven fetal carriers from 10 pregnant women were tested to analyse X‐chromosome inactivation (XCI) using amniocytes to assess the risk of dystrophinopathy. Follow‐ups were conducted on all cases.
Results
Approximately one‐third of fetuses were aborted before assessing the risk of dystrophinopathy. XCI analysis of amniocytes showed that 10 fetuses had random XCI patterns, and one fetus exhibited a highly skewed XCI pattern (100:0) with primary expression of the maternal X chromosome that carried the mutant allele. These 11 fetal carriers were born, and follow‐up showed that the girl who showed the skewed XCI pattern as a fetus was diagnosed with Duchenne muscular dystrophy (DMD) at the age of four. The others did not present with dystrophinopathy‐associated symptoms.
Conclusions
XCI was significantly implicated in symptomatic female carriers of dystrophinopathies, and XCI pattern analysis of amniocytes may be useful in predicting the risk of dystrophinopathy in fetal carriers. |
| doi_str_mv | 10.1002/pd.5473 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2231913474</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2258081255</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3783-bea68330f4dad2ef00d76113f107fbffa653bbc6d9f23ffdd9cc5a12d39aa7e43</originalsourceid><addsrcrecordid>eNp10ctKxDAUgOEgio4XfAMJuFCQ0aSZ3pYy4w0UXSi4K2lywkTbpiapUlc-gs_ok5g66kJwlUC-_IQchLYpOaSEREetPIwnKVtCI0rydEyiiC2jEaFhz7KYrqF15x4CzKI8XUVrjJIkz2g2Qq_3H2_vYm5NbZypAeuGC6-fudemwS33HmyDjcK8brQRvQeHWwtSC--wnwO22j0O57J33pp2rhsTbs37EMIKPK-w4NZqsG5Qs6sZrjv_VXebaEXxysHW97qB7k5Pbqfn48vrs4vp8eVYsDRj4xJ4kjFG1ERyGYEiRKYJpUxRkqpSKZ7ErCxFInMVMaWkzIWIOY0kyzlPYcI20P6i21rz1IHzRa2dgKriDZjOFeGvaE7ZJB3o7h_6YDrbhNcFFWcko1EcB7W3UMIa5yyoorW65rYvKCmGcRStLIZxBLnz3evKGuSv-_n_AA4W4EVX0P_XKW5mX7lPmdmWPA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2258081255</pqid></control><display><type>article</type><title>X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations</title><source>Access via Wiley Online Library</source><creator>He, Wen‐Bin ; Du, Juan ; Xie, Ping‐Yuan ; Zhou, Shuang ; Zhang, Ya‐Xin ; Lu, Guang‐Xiu ; Lin, Ge ; Li, Wen ; Tan, Yue‐Qiu</creator><creatorcontrib>He, Wen‐Bin ; Du, Juan ; Xie, Ping‐Yuan ; Zhou, Shuang ; Zhang, Ya‐Xin ; Lu, Guang‐Xiu ; Lin, Ge ; Li, Wen ; Tan, Yue‐Qiu</creatorcontrib><description>Objective
To predict the risk of dystrophinopathy in fetal carriers of dystrophin gene (DMD) mutations.
Methods
Twenty‐three pregnant women, with a total of 25 female fetuses carrying DMD mutations, were recruited. Among them, 13 pregnant women who participated in this study were only used to analyse the incidence of induced abortion after fetuses were diagnosed as dystrophinopathy carriers. Eleven fetal carriers from 10 pregnant women were tested to analyse X‐chromosome inactivation (XCI) using amniocytes to assess the risk of dystrophinopathy. Follow‐ups were conducted on all cases.
Results
Approximately one‐third of fetuses were aborted before assessing the risk of dystrophinopathy. XCI analysis of amniocytes showed that 10 fetuses had random XCI patterns, and one fetus exhibited a highly skewed XCI pattern (100:0) with primary expression of the maternal X chromosome that carried the mutant allele. These 11 fetal carriers were born, and follow‐up showed that the girl who showed the skewed XCI pattern as a fetus was diagnosed with Duchenne muscular dystrophy (DMD) at the age of four. The others did not present with dystrophinopathy‐associated symptoms.
Conclusions
XCI was significantly implicated in symptomatic female carriers of dystrophinopathies, and XCI pattern analysis of amniocytes may be useful in predicting the risk of dystrophinopathy in fetal carriers.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.5473</identifier><identifier>PMID: 31069818</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Chromosomes ; Deactivation ; Duchenne's muscular dystrophy ; Dystrophin ; Dystrophy ; Fetuses ; Girls ; Inactivation ; Muscular dystrophy ; Mutation ; Pattern analysis ; Pregnancy ; Risk analysis ; Risk assessment ; Signs and symptoms ; X chromosomes ; X-chromosome inactivation</subject><ispartof>Prenatal diagnosis, 2019-07, Vol.39 (8), p.603-608</ispartof><rights>2019 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3783-bea68330f4dad2ef00d76113f107fbffa653bbc6d9f23ffdd9cc5a12d39aa7e43</citedby><cites>FETCH-LOGICAL-c3783-bea68330f4dad2ef00d76113f107fbffa653bbc6d9f23ffdd9cc5a12d39aa7e43</cites><orcidid>0000-0002-8359-4654</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.5473$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.5473$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31069818$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>He, Wen‐Bin</creatorcontrib><creatorcontrib>Du, Juan</creatorcontrib><creatorcontrib>Xie, Ping‐Yuan</creatorcontrib><creatorcontrib>Zhou, Shuang</creatorcontrib><creatorcontrib>Zhang, Ya‐Xin</creatorcontrib><creatorcontrib>Lu, Guang‐Xiu</creatorcontrib><creatorcontrib>Lin, Ge</creatorcontrib><creatorcontrib>Li, Wen</creatorcontrib><creatorcontrib>Tan, Yue‐Qiu</creatorcontrib><title>X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>Objective
To predict the risk of dystrophinopathy in fetal carriers of dystrophin gene (DMD) mutations.
Methods
Twenty‐three pregnant women, with a total of 25 female fetuses carrying DMD mutations, were recruited. Among them, 13 pregnant women who participated in this study were only used to analyse the incidence of induced abortion after fetuses were diagnosed as dystrophinopathy carriers. Eleven fetal carriers from 10 pregnant women were tested to analyse X‐chromosome inactivation (XCI) using amniocytes to assess the risk of dystrophinopathy. Follow‐ups were conducted on all cases.
Results
Approximately one‐third of fetuses were aborted before assessing the risk of dystrophinopathy. XCI analysis of amniocytes showed that 10 fetuses had random XCI patterns, and one fetus exhibited a highly skewed XCI pattern (100:0) with primary expression of the maternal X chromosome that carried the mutant allele. These 11 fetal carriers were born, and follow‐up showed that the girl who showed the skewed XCI pattern as a fetus was diagnosed with Duchenne muscular dystrophy (DMD) at the age of four. The others did not present with dystrophinopathy‐associated symptoms.
Conclusions
XCI was significantly implicated in symptomatic female carriers of dystrophinopathies, and XCI pattern analysis of amniocytes may be useful in predicting the risk of dystrophinopathy in fetal carriers.</description><subject>Chromosomes</subject><subject>Deactivation</subject><subject>Duchenne's muscular dystrophy</subject><subject>Dystrophin</subject><subject>Dystrophy</subject><subject>Fetuses</subject><subject>Girls</subject><subject>Inactivation</subject><subject>Muscular dystrophy</subject><subject>Mutation</subject><subject>Pattern analysis</subject><subject>Pregnancy</subject><subject>Risk analysis</subject><subject>Risk assessment</subject><subject>Signs and symptoms</subject><subject>X chromosomes</subject><subject>X-chromosome inactivation</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNp10ctKxDAUgOEgio4XfAMJuFCQ0aSZ3pYy4w0UXSi4K2lywkTbpiapUlc-gs_ok5g66kJwlUC-_IQchLYpOaSEREetPIwnKVtCI0rydEyiiC2jEaFhz7KYrqF15x4CzKI8XUVrjJIkz2g2Qq_3H2_vYm5NbZypAeuGC6-fudemwS33HmyDjcK8brQRvQeHWwtSC--wnwO22j0O57J33pp2rhsTbs37EMIKPK-w4NZqsG5Qs6sZrjv_VXebaEXxysHW97qB7k5Pbqfn48vrs4vp8eVYsDRj4xJ4kjFG1ERyGYEiRKYJpUxRkqpSKZ7ErCxFInMVMaWkzIWIOY0kyzlPYcI20P6i21rz1IHzRa2dgKriDZjOFeGvaE7ZJB3o7h_6YDrbhNcFFWcko1EcB7W3UMIa5yyoorW65rYvKCmGcRStLIZxBLnz3evKGuSv-_n_AA4W4EVX0P_XKW5mX7lPmdmWPA</recordid><startdate>201907</startdate><enddate>201907</enddate><creator>He, Wen‐Bin</creator><creator>Du, Juan</creator><creator>Xie, Ping‐Yuan</creator><creator>Zhou, Shuang</creator><creator>Zhang, Ya‐Xin</creator><creator>Lu, Guang‐Xiu</creator><creator>Lin, Ge</creator><creator>Li, Wen</creator><creator>Tan, Yue‐Qiu</creator><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-8359-4654</orcidid></search><sort><creationdate>201907</creationdate><title>X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations</title><author>He, Wen‐Bin ; Du, Juan ; Xie, Ping‐Yuan ; Zhou, Shuang ; Zhang, Ya‐Xin ; Lu, Guang‐Xiu ; Lin, Ge ; Li, Wen ; Tan, Yue‐Qiu</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3783-bea68330f4dad2ef00d76113f107fbffa653bbc6d9f23ffdd9cc5a12d39aa7e43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Chromosomes</topic><topic>Deactivation</topic><topic>Duchenne's muscular dystrophy</topic><topic>Dystrophin</topic><topic>Dystrophy</topic><topic>Fetuses</topic><topic>Girls</topic><topic>Inactivation</topic><topic>Muscular dystrophy</topic><topic>Mutation</topic><topic>Pattern analysis</topic><topic>Pregnancy</topic><topic>Risk analysis</topic><topic>Risk assessment</topic><topic>Signs and symptoms</topic><topic>X chromosomes</topic><topic>X-chromosome inactivation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>He, Wen‐Bin</creatorcontrib><creatorcontrib>Du, Juan</creatorcontrib><creatorcontrib>Xie, Ping‐Yuan</creatorcontrib><creatorcontrib>Zhou, Shuang</creatorcontrib><creatorcontrib>Zhang, Ya‐Xin</creatorcontrib><creatorcontrib>Lu, Guang‐Xiu</creatorcontrib><creatorcontrib>Lin, Ge</creatorcontrib><creatorcontrib>Li, Wen</creatorcontrib><creatorcontrib>Tan, Yue‐Qiu</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>He, Wen‐Bin</au><au>Du, Juan</au><au>Xie, Ping‐Yuan</au><au>Zhou, Shuang</au><au>Zhang, Ya‐Xin</au><au>Lu, Guang‐Xiu</au><au>Lin, Ge</au><au>Li, Wen</au><au>Tan, Yue‐Qiu</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2019-07</date><risdate>2019</risdate><volume>39</volume><issue>8</issue><spage>603</spage><epage>608</epage><pages>603-608</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><abstract>Objective
To predict the risk of dystrophinopathy in fetal carriers of dystrophin gene (DMD) mutations.
Methods
Twenty‐three pregnant women, with a total of 25 female fetuses carrying DMD mutations, were recruited. Among them, 13 pregnant women who participated in this study were only used to analyse the incidence of induced abortion after fetuses were diagnosed as dystrophinopathy carriers. Eleven fetal carriers from 10 pregnant women were tested to analyse X‐chromosome inactivation (XCI) using amniocytes to assess the risk of dystrophinopathy. Follow‐ups were conducted on all cases.
Results
Approximately one‐third of fetuses were aborted before assessing the risk of dystrophinopathy. XCI analysis of amniocytes showed that 10 fetuses had random XCI patterns, and one fetus exhibited a highly skewed XCI pattern (100:0) with primary expression of the maternal X chromosome that carried the mutant allele. These 11 fetal carriers were born, and follow‐up showed that the girl who showed the skewed XCI pattern as a fetus was diagnosed with Duchenne muscular dystrophy (DMD) at the age of four. The others did not present with dystrophinopathy‐associated symptoms.
Conclusions
XCI was significantly implicated in symptomatic female carriers of dystrophinopathies, and XCI pattern analysis of amniocytes may be useful in predicting the risk of dystrophinopathy in fetal carriers.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>31069818</pmid><doi>10.1002/pd.5473</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-8359-4654</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Chromosomes Deactivation Duchenne's muscular dystrophy Dystrophin Dystrophy Fetuses Girls Inactivation Muscular dystrophy Mutation Pattern analysis Pregnancy Risk analysis Risk assessment Signs and symptoms X chromosomes X-chromosome inactivation |
| title | X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations |
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