Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review
DeSanto‐Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in the WAC gene. Affected individuals are characterized by neonatal hypotonia, developmental delay, intellectual disability, behavioral problems, and dysmorphis...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics. Part A 2022-03, Vol.188 (3), p.984-990 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 990 |
|---|---|
| container_issue | 3 |
| container_start_page | 984 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 188 |
| creator | Ho, Stephanie Luk, Ho‐Ming Lo, Ivan F. M. |
| description | DeSanto‐Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in the WAC gene. Affected individuals are characterized by neonatal hypotonia, developmental delay, intellectual disability, behavioral problems, and dysmorphism. Epilepsy is present in some of the patients with DESSH. By far, less than 30 affected individuals have been reported worldwide. Herein, we report a 9‐year‐old Chinese girl with molecularly substantiated DESSH with a de novo nonsense c. 1648C>T p.(Arg550*) variant identified in the WAC gene. Aside from developmental delay and the characteristic facial gestalt, our proband also exhibited tethered cord syndrome due to filar lipoma and left duplex kidney complicated with hydronephrosis, features not observed in any of the previously reported individuals with DESSH. |
| doi_str_mv | 10.1002/ajmg.a.62571 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2599178147</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2599178147</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3211-30d1a1806bdb26dccaaeed71d51ce6c8383535a75cbedcefc2e6b2deffa5a1293</originalsourceid><addsrcrecordid>eNp9kD1v2zAQQImgQfPVLXNBoEuG2OWHKMrdjCRNE6TokHTpQpzIUyxDIhVSiuOtP6G_sb-kcpxm6NDpDoeHh8Mj5JizKWdMfIRlez-FaS6U5jtknyslJlkh5ZvXXag9cpDSkjHJlM7fkj2Z6ZlmQu-THxdPPXpX-3vaL5B2C_ShX3dIQ0XP8RZ8H37__HW7qD2saprW3sXQ4ic6pxYS0ohdiD0F72hT9xihH-Lm-ljj6ojsVtAkfPcyD8n3zxd3Z18mN98ur87mNxMrBecTyRwHXrC8dKXInbUAiE5zp7jF3BaykEoq0MqW6CxWVmBeCodVBQq4mMlDcrL1djE8DJh609bJYtOAxzAkI9RsxnXBMz2iH_5Bl2GIfvzOiFzoTGiu2EidbikbQ0oRK9PFuoW4NpyZTXOzaW7APDcf8fcv0qFs0b3CfyOPQLYFVnWD6__KzPz66-V86_0DELaPxA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2627427150</pqid></control><display><type>article</type><title>Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review</title><source>MEDLINE</source><source>Wiley Online Library All Journals</source><creator>Ho, Stephanie ; Luk, Ho‐Ming ; Lo, Ivan F. M.</creator><creatorcontrib>Ho, Stephanie ; Luk, Ho‐Ming ; Lo, Ivan F. M.</creatorcontrib><description>DeSanto‐Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in the WAC gene. Affected individuals are characterized by neonatal hypotonia, developmental delay, intellectual disability, behavioral problems, and dysmorphism. Epilepsy is present in some of the patients with DESSH. By far, less than 30 affected individuals have been reported worldwide. Herein, we report a 9‐year‐old Chinese girl with molecularly substantiated DESSH with a de novo nonsense c. 1648C>T p.(Arg550*) variant identified in the WAC gene. Aside from developmental delay and the characteristic facial gestalt, our proband also exhibited tethered cord syndrome due to filar lipoma and left duplex kidney complicated with hydronephrosis, features not observed in any of the previously reported individuals with DESSH.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.62571</identifier><identifier>PMID: 34797027</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Case reports ; DeSanto‐Shinawi syndrome ; DESSH ; Epilepsy ; Face ; Hereditary diseases ; Humans ; Intellectual disabilities ; Intellectual Disability - diagnosis ; Intellectual Disability - genetics ; Lipoma ; Literature reviews ; Muscle Hypotonia - genetics ; Neonates ; Neurodevelopmental Disorders ; Neurological diseases ; Phenotype ; Phenotypes ; Spinal cord ; WAC</subject><ispartof>American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.984-990</ispartof><rights>2021 Wiley Periodicals LLC.</rights><rights>2022 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3211-30d1a1806bdb26dccaaeed71d51ce6c8383535a75cbedcefc2e6b2deffa5a1293</cites><orcidid>0000-0003-4239-5752 ; 0000-0003-4066-4066</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%2Fajmg.a.62571$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.62571$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34797027$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ho, Stephanie</creatorcontrib><creatorcontrib>Luk, Ho‐Ming</creatorcontrib><creatorcontrib>Lo, Ivan F. M.</creatorcontrib><title>Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>DeSanto‐Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in the WAC gene. Affected individuals are characterized by neonatal hypotonia, developmental delay, intellectual disability, behavioral problems, and dysmorphism. Epilepsy is present in some of the patients with DESSH. By far, less than 30 affected individuals have been reported worldwide. Herein, we report a 9‐year‐old Chinese girl with molecularly substantiated DESSH with a de novo nonsense c. 1648C>T p.(Arg550*) variant identified in the WAC gene. Aside from developmental delay and the characteristic facial gestalt, our proband also exhibited tethered cord syndrome due to filar lipoma and left duplex kidney complicated with hydronephrosis, features not observed in any of the previously reported individuals with DESSH.</description><subject>Case reports</subject><subject>DeSanto‐Shinawi syndrome</subject><subject>DESSH</subject><subject>Epilepsy</subject><subject>Face</subject><subject>Hereditary diseases</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - genetics</subject><subject>Lipoma</subject><subject>Literature reviews</subject><subject>Muscle Hypotonia - genetics</subject><subject>Neonates</subject><subject>Neurodevelopmental Disorders</subject><subject>Neurological diseases</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Spinal cord</subject><subject>WAC</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kD1v2zAQQImgQfPVLXNBoEuG2OWHKMrdjCRNE6TokHTpQpzIUyxDIhVSiuOtP6G_sb-kcpxm6NDpDoeHh8Mj5JizKWdMfIRlez-FaS6U5jtknyslJlkh5ZvXXag9cpDSkjHJlM7fkj2Z6ZlmQu-THxdPPXpX-3vaL5B2C_ShX3dIQ0XP8RZ8H37__HW7qD2saprW3sXQ4ic6pxYS0ohdiD0F72hT9xihH-Lm-ljj6ojsVtAkfPcyD8n3zxd3Z18mN98ur87mNxMrBecTyRwHXrC8dKXInbUAiE5zp7jF3BaykEoq0MqW6CxWVmBeCodVBQq4mMlDcrL1djE8DJh609bJYtOAxzAkI9RsxnXBMz2iH_5Bl2GIfvzOiFzoTGiu2EidbikbQ0oRK9PFuoW4NpyZTXOzaW7APDcf8fcv0qFs0b3CfyOPQLYFVnWD6__KzPz66-V86_0DELaPxA</recordid><startdate>202203</startdate><enddate>202203</enddate><creator>Ho, Stephanie</creator><creator>Luk, Ho‐Ming</creator><creator>Lo, Ivan F. M.</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-4239-5752</orcidid><orcidid>https://orcid.org/0000-0003-4066-4066</orcidid></search><sort><creationdate>202203</creationdate><title>Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review</title><author>Ho, Stephanie ; Luk, Ho‐Ming ; Lo, Ivan F. M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3211-30d1a1806bdb26dccaaeed71d51ce6c8383535a75cbedcefc2e6b2deffa5a1293</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Case reports</topic><topic>DeSanto‐Shinawi syndrome</topic><topic>DESSH</topic><topic>Epilepsy</topic><topic>Face</topic><topic>Hereditary diseases</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - diagnosis</topic><topic>Intellectual Disability - genetics</topic><topic>Lipoma</topic><topic>Literature reviews</topic><topic>Muscle Hypotonia - genetics</topic><topic>Neonates</topic><topic>Neurodevelopmental Disorders</topic><topic>Neurological diseases</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Spinal cord</topic><topic>WAC</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ho, Stephanie</creatorcontrib><creatorcontrib>Luk, Ho‐Ming</creatorcontrib><creatorcontrib>Lo, Ivan F. M.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ho, Stephanie</au><au>Luk, Ho‐Ming</au><au>Lo, Ivan F. M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2022-03</date><risdate>2022</risdate><volume>188</volume><issue>3</issue><spage>984</spage><epage>990</epage><pages>984-990</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>DeSanto‐Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in the WAC gene. Affected individuals are characterized by neonatal hypotonia, developmental delay, intellectual disability, behavioral problems, and dysmorphism. Epilepsy is present in some of the patients with DESSH. By far, less than 30 affected individuals have been reported worldwide. Herein, we report a 9‐year‐old Chinese girl with molecularly substantiated DESSH with a de novo nonsense c. 1648C>T p.(Arg550*) variant identified in the WAC gene. Aside from developmental delay and the characteristic facial gestalt, our proband also exhibited tethered cord syndrome due to filar lipoma and left duplex kidney complicated with hydronephrosis, features not observed in any of the previously reported individuals with DESSH.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>34797027</pmid><doi>10.1002/ajmg.a.62571</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0003-4239-5752</orcidid><orcidid>https://orcid.org/0000-0003-4066-4066</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.984-990 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2599178147 |
| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Case reports DeSanto‐Shinawi syndrome DESSH Epilepsy Face Hereditary diseases Humans Intellectual disabilities Intellectual Disability - diagnosis Intellectual Disability - genetics Lipoma Literature reviews Muscle Hypotonia - genetics Neonates Neurodevelopmental Disorders Neurological diseases Phenotype Phenotypes Spinal cord WAC |
| title | Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-12T06%3A51%3A48IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Extending%20the%20phenotype%20of%20DeSanto%E2%80%90Shinawi%20syndrome:%20A%20case%20report%20and%20literature%20review&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Ho,%20Stephanie&rft.date=2022-03&rft.volume=188&rft.issue=3&rft.spage=984&rft.epage=990&rft.pages=984-990&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.62571&rft_dat=%3Cproquest_cross%3E2599178147%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2627427150&rft_id=info:pmid/34797027&rfr_iscdi=true |