Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation. Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The...
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| Veröffentlicht in: | Genetics in medicine 2021-06, Vol.23 (6), p.1023-1027 |
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| creator | Domniz, Noam Levavi, Liat Ries Berkenstadt, Michal Pras, Elon Cohen, Yoram Raanani, Hila Goldstein, Dana Brabbing Yaron, Yuval Elizur, Shai Ben-Shachar, Shay |
| description | To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation.
Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The heterozygote women and fetuses were analyzed for the number of CGG repeats and AGG interruptions.
Seven hundred sixty-six subjects were included. Parental ethnicity was fully concordant in 592 cases (Jewish, Ashkenazi, and non-Ashkenazi). Ashkenazi compared with non-Ashkenazi heterozygotes have a significantly higher mean number of CGG repeats (68 ± 8.7, 64 ± 6.4 respectively, P = 0.03) and a lower mean number of AGG interruptions (0.89 ± 0.83, 1.60±1.18 respectively, p = 0.0001). Overall, 56/198 (28.2%) fetuses of Ashkenazi heterozygotes had an expansion to a full mutation compared with 6/98 among the non-Ashkenazi (6.1%) (p = 0.001). Multivariate analysis demonstrated that, in addition to CGG repeats and AGG interruptions (which contributed 68.3% of variance), ethnicity is an independent risk factor for a full mutation expansion (odds ratio [OR] = 2.04, p |
| doi_str_mv | 10.1038/s41436-020-01089-3 |
| format | Article |
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Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The heterozygote women and fetuses were analyzed for the number of CGG repeats and AGG interruptions.
Seven hundred sixty-six subjects were included. Parental ethnicity was fully concordant in 592 cases (Jewish, Ashkenazi, and non-Ashkenazi). Ashkenazi compared with non-Ashkenazi heterozygotes have a significantly higher mean number of CGG repeats (68 ± 8.7, 64 ± 6.4 respectively, P = 0.03) and a lower mean number of AGG interruptions (0.89 ± 0.83, 1.60±1.18 respectively, p = 0.0001). Overall, 56/198 (28.2%) fetuses of Ashkenazi heterozygotes had an expansion to a full mutation compared with 6/98 among the non-Ashkenazi (6.1%) (p = 0.001). Multivariate analysis demonstrated that, in addition to CGG repeats and AGG interruptions (which contributed 68.3% of variance), ethnicity is an independent risk factor for a full mutation expansion (odds ratio [OR] = 2.04, p < 0.001) and accounted for 9% of the variation of a full mutation expansion.
Apart from significant differences regarding the number of CGG repeats and AGG interruptions between Ashkenazi and non-Ashkenazi heterozygotes, ethnicity independently affects the risk of a full mutation.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/s41436-020-01089-3</identifier><identifier>PMID: 33473206</identifier><language>eng</language><publisher>New York: Elsevier Inc</publisher><subject>Alleles ; Biomedical and Life Sciences ; Biomedicine ; Ethnicity ; Female ; Fetuses ; Fragile X Mental Retardation Protein - genetics ; Fragile X Syndrome - diagnosis ; Fragile X Syndrome - genetics ; Heterozygote ; Human Genetics ; Humans ; Israel - epidemiology ; Laboratory Medicine ; Mutation ; Trinucleotide Repeat Expansion - genetics</subject><ispartof>Genetics in medicine, 2021-06, Vol.23 (6), p.1023-1027</ispartof><rights>2021 The Author(s)</rights><rights>The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021</rights><rights>The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c423t-779b5eee300ef8805fc5ae76084167bb1455f1b4a415daed3f6545649b811d843</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2538877971?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33473206$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Domniz, Noam</creatorcontrib><creatorcontrib>Levavi, Liat Ries</creatorcontrib><creatorcontrib>Berkenstadt, Michal</creatorcontrib><creatorcontrib>Pras, Elon</creatorcontrib><creatorcontrib>Cohen, Yoram</creatorcontrib><creatorcontrib>Raanani, Hila</creatorcontrib><creatorcontrib>Goldstein, Dana Brabbing</creatorcontrib><creatorcontrib>Yaron, Yuval</creatorcontrib><creatorcontrib>Elizur, Shai</creatorcontrib><creatorcontrib>Ben-Shachar, Shay</creatorcontrib><title>Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation.
Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The heterozygote women and fetuses were analyzed for the number of CGG repeats and AGG interruptions.
Seven hundred sixty-six subjects were included. Parental ethnicity was fully concordant in 592 cases (Jewish, Ashkenazi, and non-Ashkenazi). Ashkenazi compared with non-Ashkenazi heterozygotes have a significantly higher mean number of CGG repeats (68 ± 8.7, 64 ± 6.4 respectively, P = 0.03) and a lower mean number of AGG interruptions (0.89 ± 0.83, 1.60±1.18 respectively, p = 0.0001). Overall, 56/198 (28.2%) fetuses of Ashkenazi heterozygotes had an expansion to a full mutation compared with 6/98 among the non-Ashkenazi (6.1%) (p = 0.001). Multivariate analysis demonstrated that, in addition to CGG repeats and AGG interruptions (which contributed 68.3% of variance), ethnicity is an independent risk factor for a full mutation expansion (odds ratio [OR] = 2.04, p < 0.001) and accounted for 9% of the variation of a full mutation expansion.
Apart from significant differences regarding the number of CGG repeats and AGG interruptions between Ashkenazi and non-Ashkenazi heterozygotes, ethnicity independently affects the risk of a full mutation.</description><subject>Alleles</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Ethnicity</subject><subject>Female</subject><subject>Fetuses</subject><subject>Fragile X Mental Retardation Protein - genetics</subject><subject>Fragile X Syndrome - diagnosis</subject><subject>Fragile X Syndrome - genetics</subject><subject>Heterozygote</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Israel - epidemiology</subject><subject>Laboratory Medicine</subject><subject>Mutation</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kU9rFTEUxYNYbK1-ARcScONmajL5MxlwI6WthUpBdB0ymZv3UmcmY5Ipffrlm-e0Ci66ygn3d04uOQi9oeSEEqY-JE45kxWpSUUoUW3FnqEjKli5MimfF01aVTFJyCF6mdINIbRhNXmBDhnjeyWP0O-zvJ289XmHtyZhg8dlyH4e4A77cTY242UOE85bwNGnHzi4wrhlGAqYTfZlBnezmdJemTFMG-xgNAPgLWSI4dduEzIk7ELE51--UjxHeHS-QgfODAleP5zH6Pv52bfTz9XV9cXl6aeryvKa5app2k4AACMEnFJEOCsMNJIoTmXTdZQL4WjHDaeiN9AzJwUXkredorRXnB2j92vuHMPPBVLWo08WhsFMEJaka960Da9Vwwr67j_0JixxKtvpWjClyi4NLVS9UjaGlCI4PUc_mrjTlOh9NXqtRpdq9J9q9D767UP00o3Q_7U8dlEAtgKpjKYNxH9vPxn7cXVB-cFbX1zJepgs9D6CzboP_in7PW9YrWg</recordid><startdate>20210601</startdate><enddate>20210601</enddate><creator>Domniz, Noam</creator><creator>Levavi, Liat Ries</creator><creator>Berkenstadt, Michal</creator><creator>Pras, Elon</creator><creator>Cohen, Yoram</creator><creator>Raanani, Hila</creator><creator>Goldstein, Dana Brabbing</creator><creator>Yaron, Yuval</creator><creator>Elizur, Shai</creator><creator>Ben-Shachar, Shay</creator><general>Elsevier Inc</general><general>Nature Publishing Group US</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope></search><sort><creationdate>20210601</creationdate><title>Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation</title><author>Domniz, Noam ; Levavi, Liat Ries ; Berkenstadt, Michal ; Pras, Elon ; Cohen, Yoram ; Raanani, Hila ; Goldstein, Dana Brabbing ; Yaron, Yuval ; Elizur, Shai ; Ben-Shachar, Shay</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c423t-779b5eee300ef8805fc5ae76084167bb1455f1b4a415daed3f6545649b811d843</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Alleles</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Ethnicity</topic><topic>Female</topic><topic>Fetuses</topic><topic>Fragile X Mental Retardation Protein - genetics</topic><topic>Fragile X Syndrome - diagnosis</topic><topic>Fragile X Syndrome - genetics</topic><topic>Heterozygote</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Israel - epidemiology</topic><topic>Laboratory Medicine</topic><topic>Mutation</topic><topic>Trinucleotide Repeat Expansion - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Domniz, Noam</creatorcontrib><creatorcontrib>Levavi, Liat Ries</creatorcontrib><creatorcontrib>Berkenstadt, Michal</creatorcontrib><creatorcontrib>Pras, Elon</creatorcontrib><creatorcontrib>Cohen, Yoram</creatorcontrib><creatorcontrib>Raanani, Hila</creatorcontrib><creatorcontrib>Goldstein, Dana Brabbing</creatorcontrib><creatorcontrib>Yaron, Yuval</creatorcontrib><creatorcontrib>Elizur, Shai</creatorcontrib><creatorcontrib>Ben-Shachar, Shay</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Domniz, Noam</au><au>Levavi, Liat Ries</au><au>Berkenstadt, Michal</au><au>Pras, Elon</au><au>Cohen, Yoram</au><au>Raanani, Hila</au><au>Goldstein, Dana Brabbing</au><au>Yaron, Yuval</au><au>Elizur, Shai</au><au>Ben-Shachar, Shay</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2021-06-01</date><risdate>2021</risdate><volume>23</volume><issue>6</issue><spage>1023</spage><epage>1027</epage><pages>1023-1027</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation.
Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The heterozygote women and fetuses were analyzed for the number of CGG repeats and AGG interruptions.
Seven hundred sixty-six subjects were included. Parental ethnicity was fully concordant in 592 cases (Jewish, Ashkenazi, and non-Ashkenazi). Ashkenazi compared with non-Ashkenazi heterozygotes have a significantly higher mean number of CGG repeats (68 ± 8.7, 64 ± 6.4 respectively, P = 0.03) and a lower mean number of AGG interruptions (0.89 ± 0.83, 1.60±1.18 respectively, p = 0.0001). Overall, 56/198 (28.2%) fetuses of Ashkenazi heterozygotes had an expansion to a full mutation compared with 6/98 among the non-Ashkenazi (6.1%) (p = 0.001). Multivariate analysis demonstrated that, in addition to CGG repeats and AGG interruptions (which contributed 68.3% of variance), ethnicity is an independent risk factor for a full mutation expansion (odds ratio [OR] = 2.04, p < 0.001) and accounted for 9% of the variation of a full mutation expansion.
Apart from significant differences regarding the number of CGG repeats and AGG interruptions between Ashkenazi and non-Ashkenazi heterozygotes, ethnicity independently affects the risk of a full mutation.</abstract><cop>New York</cop><pub>Elsevier Inc</pub><pmid>33473206</pmid><doi>10.1038/s41436-020-01089-3</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Alleles Biomedical and Life Sciences Biomedicine Ethnicity Female Fetuses Fragile X Mental Retardation Protein - genetics Fragile X Syndrome - diagnosis Fragile X Syndrome - genetics Heterozygote Human Genetics Humans Israel - epidemiology Laboratory Medicine Mutation Trinucleotide Repeat Expansion - genetics |
| title | Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation |
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