A new F-box protein 7 gene mutation causing typical Parkinson's disease
Background Recessive mutations in the F‐box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations. Methods Whole exome and targeted Sanger sequencing were per...
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| Veröffentlicht in: | Movement disorders 2015-07, Vol.30 (8), p.1130-1133 |
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| creator | Lohmann, Ebba Coquel, Anne-Sophie Honoré, Aurélie Gurvit, Hakan Hanagasi, Hasmet Emre, Murat Leutenegger, Anne L. Drouet, Valérie Sahbatou, Mourad Guven, Gamze Erginel-Unaltuna, Nihan Deleuze, Jean-Francois Lesage, Suzanne Brice, Alexis |
| description | Background
Recessive mutations in the F‐box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.
Methods
Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.
Results
The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa‐responsive PD.
Conclusion
This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety. © 2015 International Parkinson and Movement Disorder Society |
| doi_str_mv | 10.1002/mds.26266 |
| format | Article |
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Recessive mutations in the F‐box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.
Methods
Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.
Results
The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa‐responsive PD.
Conclusion
This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety. © 2015 International Parkinson and Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.26266</identifier><identifier>PMID: 26010069</identifier><identifier>CODEN: MOVDEA</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Aged, 80 and over ; autosomal-recessive ; Consanguinity ; F-Box Proteins - genetics ; FBXO7 gene ; Female ; Humans ; Life Sciences ; Male ; Middle Aged ; Movement disorders ; Mutation ; Neurobiology ; Neurons and Cognition ; Parkinson disease ; Parkinson Disease - genetics ; Parkinson Disease - physiopathology ; Pedigree ; phenotype ; Turkey</subject><ispartof>Movement disorders, 2015-07, Vol.30 (8), p.1130-1133</ispartof><rights>2015 International Parkinson and Movement Disorder Society</rights><rights>2015 International Parkinson and Movement Disorder Society.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5246-e3782b8b7b921de1f6f3dcae01a716b62d743d47cd0845c44c693993c22d0c223</citedby><cites>FETCH-LOGICAL-c5246-e3782b8b7b921de1f6f3dcae01a716b62d743d47cd0845c44c693993c22d0c223</cites><orcidid>0000-0002-0941-3990</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%2Fmds.26266$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.26266$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26010069$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://cea.hal.science/cea-04589457$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Lohmann, Ebba</creatorcontrib><creatorcontrib>Coquel, Anne-Sophie</creatorcontrib><creatorcontrib>Honoré, Aurélie</creatorcontrib><creatorcontrib>Gurvit, Hakan</creatorcontrib><creatorcontrib>Hanagasi, Hasmet</creatorcontrib><creatorcontrib>Emre, Murat</creatorcontrib><creatorcontrib>Leutenegger, Anne L.</creatorcontrib><creatorcontrib>Drouet, Valérie</creatorcontrib><creatorcontrib>Sahbatou, Mourad</creatorcontrib><creatorcontrib>Guven, Gamze</creatorcontrib><creatorcontrib>Erginel-Unaltuna, Nihan</creatorcontrib><creatorcontrib>Deleuze, Jean-Francois</creatorcontrib><creatorcontrib>Lesage, Suzanne</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><title>A new F-box protein 7 gene mutation causing typical Parkinson's disease</title><title>Movement disorders</title><addtitle>Mov Disord</addtitle><description>Background
Recessive mutations in the F‐box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.
Methods
Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.
Results
The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa‐responsive PD.
Conclusion
This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety. © 2015 International Parkinson and Movement Disorder Society</description><subject>Aged, 80 and over</subject><subject>autosomal-recessive</subject><subject>Consanguinity</subject><subject>F-Box Proteins - genetics</subject><subject>FBXO7 gene</subject><subject>Female</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Movement disorders</subject><subject>Mutation</subject><subject>Neurobiology</subject><subject>Neurons and Cognition</subject><subject>Parkinson disease</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson Disease - physiopathology</subject><subject>Pedigree</subject><subject>phenotype</subject><subject>Turkey</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkctuFDEQRS0EIkNgwQ8gSywSFp34bfdyFJIJYniI59Jy2zXBods9tLtJ5u9xmGSQkBCbqs25V1U6CD2l5IgSwo67kI-YYkrdQzMqOa0Mk_o-mhFjZMWpkXvoUc6XhFAqqXqI9pgiJajqGVrMcYIrfFY1_TVeD_0IMWGNLyAB7qbRjbFP2Lspx3SBx806etfi9274HlPu00HGIWZwGR6jByvXZnhyu_fR57PTTyfn1fLd4tXJfFl5yYSqgGvDGtPopmY0AF2pFQ_eAaFOU9UoFrTgQWgfiBHSC-FVzeuae8YCKYPvoxfb3m-uteshdm7Y2N5Fez5fWg_OEiFNLaT-SQt7uGXLXz8myKPtYvbQti5BP2VLNaHCaMHM_1FVa0ap0LKgz_9CL_tpSOXpG0oRSYjgf-70Q5_zAKvdsZTYG2m2SLO_pRX22W3j1HQQduSdpQIcb4Gr2MLm3032zcuPd5XVNhHzCNe7RPFmleZa2q9vF5Z94K-1-ULsgv8Cmaerbw</recordid><startdate>201507</startdate><enddate>201507</enddate><creator>Lohmann, Ebba</creator><creator>Coquel, Anne-Sophie</creator><creator>Honoré, Aurélie</creator><creator>Gurvit, Hakan</creator><creator>Hanagasi, Hasmet</creator><creator>Emre, Murat</creator><creator>Leutenegger, Anne L.</creator><creator>Drouet, Valérie</creator><creator>Sahbatou, Mourad</creator><creator>Guven, Gamze</creator><creator>Erginel-Unaltuna, Nihan</creator><creator>Deleuze, Jean-Francois</creator><creator>Lesage, Suzanne</creator><creator>Brice, Alexis</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><general>Wiley</general><scope>BSCLL</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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope><orcidid>https://orcid.org/0000-0002-0941-3990</orcidid></search><sort><creationdate>201507</creationdate><title>A new F-box protein 7 gene mutation causing typical Parkinson's disease</title><author>Lohmann, Ebba ; Coquel, Anne-Sophie ; Honoré, Aurélie ; Gurvit, Hakan ; Hanagasi, Hasmet ; Emre, Murat ; Leutenegger, Anne L. ; Drouet, Valérie ; Sahbatou, Mourad ; Guven, Gamze ; Erginel-Unaltuna, Nihan ; Deleuze, Jean-Francois ; Lesage, Suzanne ; Brice, Alexis</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5246-e3782b8b7b921de1f6f3dcae01a716b62d743d47cd0845c44c693993c22d0c223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Aged, 80 and over</topic><topic>autosomal-recessive</topic><topic>Consanguinity</topic><topic>F-Box Proteins - genetics</topic><topic>FBXO7 gene</topic><topic>Female</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Movement disorders</topic><topic>Mutation</topic><topic>Neurobiology</topic><topic>Neurons and Cognition</topic><topic>Parkinson disease</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson Disease - physiopathology</topic><topic>Pedigree</topic><topic>phenotype</topic><topic>Turkey</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lohmann, Ebba</creatorcontrib><creatorcontrib>Coquel, Anne-Sophie</creatorcontrib><creatorcontrib>Honoré, Aurélie</creatorcontrib><creatorcontrib>Gurvit, Hakan</creatorcontrib><creatorcontrib>Hanagasi, Hasmet</creatorcontrib><creatorcontrib>Emre, Murat</creatorcontrib><creatorcontrib>Leutenegger, Anne L.</creatorcontrib><creatorcontrib>Drouet, Valérie</creatorcontrib><creatorcontrib>Sahbatou, Mourad</creatorcontrib><creatorcontrib>Guven, Gamze</creatorcontrib><creatorcontrib>Erginel-Unaltuna, Nihan</creatorcontrib><creatorcontrib>Deleuze, Jean-Francois</creatorcontrib><creatorcontrib>Lesage, Suzanne</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lohmann, Ebba</au><au>Coquel, Anne-Sophie</au><au>Honoré, Aurélie</au><au>Gurvit, Hakan</au><au>Hanagasi, Hasmet</au><au>Emre, Murat</au><au>Leutenegger, Anne L.</au><au>Drouet, Valérie</au><au>Sahbatou, Mourad</au><au>Guven, Gamze</au><au>Erginel-Unaltuna, Nihan</au><au>Deleuze, Jean-Francois</au><au>Lesage, Suzanne</au><au>Brice, Alexis</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A new F-box protein 7 gene mutation causing typical Parkinson's disease</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov Disord</addtitle><date>2015-07</date><risdate>2015</risdate><volume>30</volume><issue>8</issue><spage>1130</spage><epage>1133</epage><pages>1130-1133</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><coden>MOVDEA</coden><abstract>Background
Recessive mutations in the F‐box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.
Methods
Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.
Results
The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa‐responsive PD.
Conclusion
This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety. © 2015 International Parkinson and Movement Disorder Society</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>26010069</pmid><doi>10.1002/mds.26266</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-0941-3990</orcidid></addata></record> |
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| ispartof | Movement disorders, 2015-07, Vol.30 (8), p.1130-1133 |
| issn | 0885-3185 1531-8257 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Aged, 80 and over autosomal-recessive Consanguinity F-Box Proteins - genetics FBXO7 gene Female Humans Life Sciences Male Middle Aged Movement disorders Mutation Neurobiology Neurons and Cognition Parkinson disease Parkinson Disease - genetics Parkinson Disease - physiopathology Pedigree phenotype Turkey |
| title | A new F-box protein 7 gene mutation causing typical Parkinson's disease |
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