Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome
Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.
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| Veröffentlicht in: | Clinical genetics 2023-11, Vol.104 (5), p.607-609 |
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| container_title | Clinical genetics |
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| creator | Belnap, Newell Price‐Smith, Aiai Ramsey, Keri Leka, Kamawela Abraham, Anna Lieberman, Emma Hassett, Katie Potu, Sai Rudy, Natasha Smith, Kirstin Mikhail, Fady M. Monaghan, Kirstin G. Hendershot, Andrea Mourmans, Jeroen Descartes, Maria Huentelman, Matthew J. Sills, Jennifer Rangasamy, Sampath Narayanan, Vinodh |
| description | Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3. |
| doi_str_mv | 10.1111/cge.14408 |
| format | Article |
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(A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.</description><subject>Autosomal dominant inheritance</subject><subject>casein kinase 2</subject><subject>CSNK2A1</subject><subject>inherited variants</subject><subject>Maternal inheritance</subject><subject>Neurodevelopmental disorders</subject><subject>Okur‐Chung neurodevelopmental syndrome</subject><subject>variable expressivity</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><recordid>eNp10EtOwzAQBmALgWh5LLgAisQGFim2Ez-yrKICFRVdAOvITSbUkDjFToq64wickZNgCLBAYjajkT79Gv0IHRE8In7O8wcYkTjGcgsNSZQkIcY43kZDv5IwITwaoD3nHv0ZCZbsokEk4oRIgYfobmqWYHULRZDe3lzTMQnWymplWhdoE5Sq1pUGF7zodhnMnzr7_vqWLjvzEBjobFPAGqpmVYNpVRW4jSlsU8MB2ilV5eDwe--j-4vJXXoVzuaX03Q8C_NIShlSyRmWkkeCF4rlquAEC0KAR5QTueDAWcEWgpZU0RJjBgIDk4JI5u9Ekmgfnfa5K9s8d-DarNYuh6pSBprOZVTGNGaEJ7GnJ3_oY9NZ47_zSmBJaCylV2e9ym3jnIUyW1ldK7vJCM4-q8581dlX1d4efyd2ixqKX_nTrQfnPXjRFWz-T8rSy0kf-QGV34Zo</recordid><startdate>202311</startdate><enddate>202311</enddate><creator>Belnap, Newell</creator><creator>Price‐Smith, Aiai</creator><creator>Ramsey, Keri</creator><creator>Leka, Kamawela</creator><creator>Abraham, Anna</creator><creator>Lieberman, Emma</creator><creator>Hassett, Katie</creator><creator>Potu, Sai</creator><creator>Rudy, Natasha</creator><creator>Smith, Kirstin</creator><creator>Mikhail, Fady M.</creator><creator>Monaghan, Kirstin G.</creator><creator>Hendershot, Andrea</creator><creator>Mourmans, Jeroen</creator><creator>Descartes, Maria</creator><creator>Huentelman, Matthew J.</creator><creator>Sills, Jennifer</creator><creator>Rangasamy, Sampath</creator><creator>Narayanan, Vinodh</creator><general>Blackwell Publishing Ltd</general><scope>24P</scope><scope>WIN</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-2151-9162</orcidid></search><sort><creationdate>202311</creationdate><title>Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome</title><author>Belnap, Newell ; Price‐Smith, Aiai ; Ramsey, Keri ; Leka, Kamawela ; Abraham, Anna ; Lieberman, Emma ; Hassett, Katie ; Potu, Sai ; Rudy, Natasha ; Smith, Kirstin ; Mikhail, Fady M. ; Monaghan, Kirstin G. ; Hendershot, Andrea ; Mourmans, Jeroen ; Descartes, Maria ; Huentelman, Matthew J. ; Sills, Jennifer ; Rangasamy, Sampath ; Narayanan, Vinodh</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3888-28650886376da5cad610711e632618b6e65d5b72f2a2f005e70e587185a2f9813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Autosomal dominant inheritance</topic><topic>casein kinase 2</topic><topic>CSNK2A1</topic><topic>inherited variants</topic><topic>Maternal inheritance</topic><topic>Neurodevelopmental disorders</topic><topic>Okur‐Chung neurodevelopmental syndrome</topic><topic>variable expressivity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Belnap, Newell</creatorcontrib><creatorcontrib>Price‐Smith, Aiai</creatorcontrib><creatorcontrib>Ramsey, Keri</creatorcontrib><creatorcontrib>Leka, Kamawela</creatorcontrib><creatorcontrib>Abraham, Anna</creatorcontrib><creatorcontrib>Lieberman, Emma</creatorcontrib><creatorcontrib>Hassett, Katie</creatorcontrib><creatorcontrib>Potu, Sai</creatorcontrib><creatorcontrib>Rudy, Natasha</creatorcontrib><creatorcontrib>Smith, Kirstin</creatorcontrib><creatorcontrib>Mikhail, Fady M.</creatorcontrib><creatorcontrib>Monaghan, Kirstin G.</creatorcontrib><creatorcontrib>Hendershot, Andrea</creatorcontrib><creatorcontrib>Mourmans, Jeroen</creatorcontrib><creatorcontrib>Descartes, Maria</creatorcontrib><creatorcontrib>Huentelman, Matthew J.</creatorcontrib><creatorcontrib>Sills, Jennifer</creatorcontrib><creatorcontrib>Rangasamy, Sampath</creatorcontrib><creatorcontrib>Narayanan, Vinodh</creatorcontrib><collection>Wiley-Blackwell Open Access Titles</collection><collection>Wiley Free Content</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Belnap, Newell</au><au>Price‐Smith, Aiai</au><au>Ramsey, Keri</au><au>Leka, Kamawela</au><au>Abraham, Anna</au><au>Lieberman, Emma</au><au>Hassett, Katie</au><au>Potu, Sai</au><au>Rudy, Natasha</au><au>Smith, Kirstin</au><au>Mikhail, Fady M.</au><au>Monaghan, Kirstin G.</au><au>Hendershot, Andrea</au><au>Mourmans, Jeroen</au><au>Descartes, Maria</au><au>Huentelman, Matthew J.</au><au>Sills, Jennifer</au><au>Rangasamy, Sampath</au><au>Narayanan, Vinodh</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2023-11</date><risdate>2023</risdate><volume>104</volume><issue>5</issue><spage>607</spage><epage>609</epage><pages>607-609</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><abstract>Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. 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| source | Wiley Online Library Journals Frontfile Complete |
| subjects | Autosomal dominant inheritance casein kinase 2 CSNK2A1 inherited variants Maternal inheritance Neurodevelopmental disorders Okur‐Chung neurodevelopmental syndrome variable expressivity |
| title | Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome |
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