RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants
This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, whic...
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| Veröffentlicht in: | JIMD Reports, Volume 43 Volume 43, 2019, Vol.43, p.111-116 |
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| container_title | JIMD Reports, Volume 43 |
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| creator | Quelhas, D. Jaeken, J. Fortuna, A. Azevedo, L. Bandeira, A. Matthijs, G. Martins, E. |
| description | This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G > A (p.G276D), c.73C > T (p.R25W), and c.208T > C (p.C70R). |
| doi_str_mv | 10.1007/8904_2018_112 |
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Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. 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Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G > A (p.G276D), c.73C > T (p.R25W), and c.208T > C (p.C70R).</description><subject>CDG</subject><subject>Congenital disorder(s) of glycosylation</subject><subject>Deafness</subject><subject>Phenotype</subject><subject>RFT1</subject><issn>2192-8304</issn><issn>2192-8312</issn><isbn>3662586134</isbn><isbn>9783662586136</isbn><isbn>3662586142</isbn><isbn>9783662586143</isbn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNpdUU1v1DAUNN_9oEeuyEcklNbv2U7sHpCq7QdIVYvQgsTJchJn15C1Q5xt1X-PV10K5eQnz2jmvRlC3gA7BMaqI6WZMMhAGQB8QvZ4WaJUJQh8SnYRNBaKAz77C3Dx_AFg4iXZA6YgT1zqHXKQ0g_GGAJIDeIV2UGtkTMNu-T7l_M5FLPTi2N6UicXGkdjR88G37sh3VEbWnrqbBdcStQHOr-N9LOdvAtTord-WtKreOP6zd8yLlzwDf1mR28z_Jq86Gyf3MH23Sdfz8_ms4_F5fXFp9nJZdFwIbFA1Iyjasu6LLnOs-6UYqICLmUt26oWikvraoXC5mPQYatKbKq2q1Cgqvk--XCvO6zrlWubvNpoezOMfmXHOxOtN4-R4JdmEW9MyXMGTGWBd1uBMf5auzSZlU-N63sbXFynXIOsBNcAG-rbf70eTP7kmQnv7wkpQ2HhRlPH-DMZYGbTq3nUa2aL_5zdhr5dtFnaYXJjMrLkLMdkkENW0fw3BfKbPA</recordid><startdate>2019</startdate><enddate>2019</enddate><creator>Quelhas, D.</creator><creator>Jaeken, J.</creator><creator>Fortuna, A.</creator><creator>Azevedo, L.</creator><creator>Bandeira, A.</creator><creator>Matthijs, G.</creator><creator>Martins, E.</creator><general>Springer Berlin / Heidelberg</general><general>Springer Berlin Heidelberg</general><scope>FFUUA</scope><scope>NPM</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>2019</creationdate><title>RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants</title><author>Quelhas, D. ; Jaeken, J. ; Fortuna, A. ; Azevedo, L. ; Bandeira, A. ; Matthijs, G. ; Martins, E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3452-2290328d6b66399039f880471355b5d7b4835aeb824a3592e2d862c7df72428b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>CDG</topic><topic>Congenital disorder(s) of glycosylation</topic><topic>Deafness</topic><topic>Phenotype</topic><topic>RFT1</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Quelhas, D.</creatorcontrib><creatorcontrib>Jaeken, J.</creatorcontrib><creatorcontrib>Fortuna, A.</creatorcontrib><creatorcontrib>Azevedo, L.</creatorcontrib><creatorcontrib>Bandeira, A.</creatorcontrib><creatorcontrib>Matthijs, G.</creatorcontrib><creatorcontrib>Martins, E.</creatorcontrib><collection>ProQuest Ebook Central - Book Chapters - Demo use only</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>JIMD Reports, Volume 43</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Quelhas, D.</au><au>Jaeken, J.</au><au>Fortuna, A.</au><au>Azevedo, L.</au><au>Bandeira, A.</au><au>Matthijs, G.</au><au>Martins, E.</au><au>Morava, Eva</au><au>Zschocke, Johannes</au><au>Peters, Verena</au><au>Baumgartner, Matthias</au><au>Rahman, Shamima</au><au>Patterson, Marc</au><au>Patterson, Marc</au><au>Zschocke, Johannes</au><au>Morava, Eva</au><au>Rahman, Shamima</au><au>Peters, Verena</au><au>Baumgartner, Matthias</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants</atitle><jtitle>JIMD Reports, Volume 43</jtitle><addtitle>JIMD Rep</addtitle><date>2019</date><risdate>2019</risdate><volume>43</volume><spage>111</spage><epage>116</epage><pages>111-116</pages><issn>2192-8304</issn><eissn>2192-8312</eissn><isbn>3662586134</isbn><isbn>9783662586136</isbn><eisbn>3662586142</eisbn><eisbn>9783662586143</eisbn><abstract>This report is on two novel patients with RFT1-CDG. 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| source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Wiley-Blackwell Open Access Titles; PubMed Central |
| subjects | CDG Congenital disorder(s) of glycosylation Deafness Phenotype RFT1 |
| title | RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants |
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