A novel CUL4B splice site variant in a young male exhibiting less pronounced features
Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B , which was...
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| Veröffentlicht in: | Human genome variation 2019-09, Vol.6 (1), p.43-43, Article 43 |
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| creator | Nakamura, Yuji Okuno, Yusuke Muramatsu, Hideki Kawai, Tomoko Satou, Kazuhito Ieda, Daisuke Hori, Ikumi Ohashi, Kei Negishi, Yutaka Hattori, Ayako Takahashi, Yoshiyuki Kojima, Seiji Saitoh, Shinji |
| description | Patients with variants in
CUL4B
exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in
CUL4B
, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype–phenotype correlations in
CUL4B
-related disorders. |
| doi_str_mv | 10.1038/s41439-019-0074-6 |
| format | Article |
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CUL4B
exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in
CUL4B
, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype–phenotype correlations in
CUL4B
-related disorders.</description><identifier>ISSN: 2054-345X</identifier><identifier>EISSN: 2054-345X</identifier><identifier>DOI: 10.1038/s41439-019-0074-6</identifier><identifier>PMID: 31645981</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>692/308/2056 ; 692/308/409 ; Biomedical and Life Sciences ; Biomedicine ; Data Report ; Gene Expression ; Gene Function ; Gene Therapy ; Human Genetics ; Intellectual disabilities ; Molecular Medicine</subject><ispartof>Human genome variation, 2019-09, Vol.6 (1), p.43-43, Article 43</ispartof><rights>The Author(s) 2019</rights><rights>The Author(s) 2019.</rights><rights>This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c560t-633e5fb5c30cf01dbe7195ee18f7c43bb9be06f8b99ba2cdb4fd7a231b27a9d03</citedby><cites>FETCH-LOGICAL-c560t-633e5fb5c30cf01dbe7195ee18f7c43bb9be06f8b99ba2cdb4fd7a231b27a9d03</cites><orcidid>0000-0001-6911-3351 ; 0000-0003-4481-0673 ; 0000-0003-3139-9272 ; 0000-0001-8137-0334</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804535/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804535/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27901,27902,41096,42165,51551,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31645981$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nakamura, Yuji</creatorcontrib><creatorcontrib>Okuno, Yusuke</creatorcontrib><creatorcontrib>Muramatsu, Hideki</creatorcontrib><creatorcontrib>Kawai, Tomoko</creatorcontrib><creatorcontrib>Satou, Kazuhito</creatorcontrib><creatorcontrib>Ieda, Daisuke</creatorcontrib><creatorcontrib>Hori, Ikumi</creatorcontrib><creatorcontrib>Ohashi, Kei</creatorcontrib><creatorcontrib>Negishi, Yutaka</creatorcontrib><creatorcontrib>Hattori, Ayako</creatorcontrib><creatorcontrib>Takahashi, Yoshiyuki</creatorcontrib><creatorcontrib>Kojima, Seiji</creatorcontrib><creatorcontrib>Saitoh, Shinji</creatorcontrib><title>A novel CUL4B splice site variant in a young male exhibiting less pronounced features</title><title>Human genome variation</title><addtitle>Hum Genome Var</addtitle><addtitle>Hum Genome Var</addtitle><description>Patients with variants in
CUL4B
exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in
CUL4B
, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype–phenotype correlations in
CUL4B
-related disorders.</description><subject>692/308/2056</subject><subject>692/308/409</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Data Report</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Human Genetics</subject><subject>Intellectual disabilities</subject><subject>Molecular Medicine</subject><issn>2054-345X</issn><issn>2054-345X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kctqHDEQRUVIiI3jD8jGCLLJpm09u6VNwBn8goFsMpCdkNTVY5keaSx1D_bfW2YcxwlkIUrinrqq4iL0mZJTSrg6K4IKrhtC6yGdaNp36JARKRou5K_3b-4H6LiUO0IIlVooyj-iA05bIbWih2h1jmPawYgXq6X4jst2DB5wCRPgnc3BxgmHiC1-THNc440dAcPDbXBhCvU9Qil4m1OsqoceD2CnOUP5hD4Mdixw_FKP0Ory4ufiuln-uLpZnC8bL1syNS3nIAcnPSd-ILR30FEtAagaOi-4c9oBaQfltHaW-d6Joe8s49Sxzuqe8CP0be-7nd0Geg9xynY02xw2Nj-aZIP5W4nh1qzTzrSKCMllNfj6YpDT_QxlMptQPIyjjZDmYhgnSjLOpa7ol3_QuzTnWNczjCkhlaYtrRTdUz6nUjIMr8NQYp5zM_vcTM3NPOdm2tpz8naL147fKVWA7YFSpbiG_Ofr_7s-ASNApBM</recordid><startdate>20190904</startdate><enddate>20190904</enddate><creator>Nakamura, Yuji</creator><creator>Okuno, Yusuke</creator><creator>Muramatsu, Hideki</creator><creator>Kawai, Tomoko</creator><creator>Satou, Kazuhito</creator><creator>Ieda, Daisuke</creator><creator>Hori, Ikumi</creator><creator>Ohashi, Kei</creator><creator>Negishi, Yutaka</creator><creator>Hattori, Ayako</creator><creator>Takahashi, Yoshiyuki</creator><creator>Kojima, Seiji</creator><creator>Saitoh, Shinji</creator><general>Nature Publishing Group UK</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T3</scope><scope>7X7</scope><scope>7XB</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>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-6911-3351</orcidid><orcidid>https://orcid.org/0000-0003-4481-0673</orcidid><orcidid>https://orcid.org/0000-0003-3139-9272</orcidid><orcidid>https://orcid.org/0000-0001-8137-0334</orcidid></search><sort><creationdate>20190904</creationdate><title>A novel CUL4B splice site variant in a young male exhibiting less pronounced features</title><author>Nakamura, Yuji ; 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CUL4B
exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in
CUL4B
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CUL4B
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| source | Nature Free; DOAJ Directory of Open Access Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central; Springer Nature OA Free Journals |
| subjects | 692/308/2056 692/308/409 Biomedical and Life Sciences Biomedicine Data Report Gene Expression Gene Function Gene Therapy Human Genetics Intellectual disabilities Molecular Medicine |
| title | A novel CUL4B splice site variant in a young male exhibiting less pronounced features |
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