Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study
Abstract Two truncating variations ( WDR90 V1125fs and EFCAB5 L1210fs), identified by whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder (ASD), were not detected in 257 ASD patients, 677 schizophrenia patients or 667 controls in a follow-up study....
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| Veröffentlicht in: | Psychiatry research 2015-09, Vol.229 (1), p.599-601 |
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| container_title | Psychiatry research |
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| creator | Egawa, Jun Watanabe, Yuichiro Sugimoto, Atsunori Nunokawa, Ayako Shibuya, Masako Igeta, Hirofumi Inoue, Emiko Hoya, Satoshi Orime, Naoki Hayashi, Taketsugu Sugiyama, Toshiro Someya, Toshiyuki |
| description | Abstract Two truncating variations ( WDR90 V1125fs and EFCAB5 L1210fs), identified by whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder (ASD), were not detected in 257 ASD patients, 677 schizophrenia patients or 667 controls in a follow-up study. Thus, these variations were exclusively identified in the family, suggesting that rare truncating variations may have a role in the genetic etiology of ASD, at least in a subset of ASD patients. |
| doi_str_mv | 10.1016/j.psychres.2015.07.018 |
| format | Article |
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Thus, these variations were exclusively identified in the family, suggesting that rare truncating variations may have a role in the genetic etiology of ASD, at least in a subset of ASD patients.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Autism Spectrum Disorder - diagnosis</subject><subject>Autism Spectrum Disorder - genetics</subject><subject>Child</subject><subject>Exome - genetics</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Humans</subject><subject>Japanese</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Psychiatry</subject><subject>Schizophrenia</subject><subject>Schizophrenia - diagnosis</subject><subject>Schizophrenia - genetics</subject><subject>Sequence Analysis, DNA - methods</subject><subject>Truncating variation</subject><subject>Twins, Monozygotic - genetics</subject><subject>Young Adult</subject><issn>0165-1781</issn><issn>1872-7123</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkk1v1DAQhi0EokvhL1Q-ckmYsTdfFwSq-JIqcQDE0XKcSddLYgc7YQkS_x1H23Lgwsmy5pl3NI_N2BVCjoDli2M-xdUcAsVcABY5VDlg_YDtsK5EVqGQD9kugUWGVY0X7EmMRwAQ2DSP2YUosW6krHfs99eDHyijn34kHun7Qs5Yd8ut45r3erTDyk92PqTb6J3_td762Ro-nxIwaRu48c740Gk3894HrpfZxpHHicwclpF3NqYqpYLrtkQ_DP6ULROP89KtT9mjXg-Rnt2dl-zL2zefr99nNx_ffbh-fZOZfSPnrJRFQRKxEtDWPVRgGqSmN4awbKGTpgLdGQDZ66Ld6wQ1HZmmF63osd_v5SV7fs6dgk8rxlmNNhoaBu3IL1FhBaVAUZYyoeUZNcHHGKhXU7CjDqtCUJt6dVT36tWmXkGlkvrUeHU3Y2lH6v623btOwKszQGnTH5aCisYm3dTZkGypztv_z3j5T4QZrLNGD99opXj0S3DJo0IVhQL1afsA2_tjAbAvJco_UQaweQ</recordid><startdate>20150930</startdate><enddate>20150930</enddate><creator>Egawa, Jun</creator><creator>Watanabe, Yuichiro</creator><creator>Sugimoto, Atsunori</creator><creator>Nunokawa, Ayako</creator><creator>Shibuya, Masako</creator><creator>Igeta, Hirofumi</creator><creator>Inoue, Emiko</creator><creator>Hoya, Satoshi</creator><creator>Orime, Naoki</creator><creator>Hayashi, Taketsugu</creator><creator>Sugiyama, Toshiro</creator><creator>Someya, Toshiyuki</creator><general>Elsevier Ireland Ltd</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>7X8</scope></search><sort><creationdate>20150930</creationdate><title>Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study</title><author>Egawa, Jun ; Watanabe, Yuichiro ; Sugimoto, Atsunori ; Nunokawa, Ayako ; Shibuya, Masako ; Igeta, Hirofumi ; Inoue, Emiko ; Hoya, Satoshi ; Orime, Naoki ; Hayashi, Taketsugu ; Sugiyama, Toshiro ; Someya, Toshiyuki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c493t-6355e311720b8f070c91e9fcce16b0d3c70adc003fa5b4a0b89dec9f2b2f1f443</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Autism Spectrum Disorder - diagnosis</topic><topic>Autism Spectrum Disorder - genetics</topic><topic>Child</topic><topic>Exome - genetics</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Humans</topic><topic>Japanese</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Psychiatry</topic><topic>Schizophrenia</topic><topic>Schizophrenia - diagnosis</topic><topic>Schizophrenia - genetics</topic><topic>Sequence Analysis, DNA - methods</topic><topic>Truncating variation</topic><topic>Twins, Monozygotic - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Egawa, Jun</creatorcontrib><creatorcontrib>Watanabe, Yuichiro</creatorcontrib><creatorcontrib>Sugimoto, Atsunori</creatorcontrib><creatorcontrib>Nunokawa, Ayako</creatorcontrib><creatorcontrib>Shibuya, Masako</creatorcontrib><creatorcontrib>Igeta, Hirofumi</creatorcontrib><creatorcontrib>Inoue, Emiko</creatorcontrib><creatorcontrib>Hoya, Satoshi</creatorcontrib><creatorcontrib>Orime, Naoki</creatorcontrib><creatorcontrib>Hayashi, Taketsugu</creatorcontrib><creatorcontrib>Sugiyama, Toshiro</creatorcontrib><creatorcontrib>Someya, Toshiyuki</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Psychiatry research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Egawa, Jun</au><au>Watanabe, Yuichiro</au><au>Sugimoto, Atsunori</au><au>Nunokawa, Ayako</au><au>Shibuya, Masako</au><au>Igeta, Hirofumi</au><au>Inoue, Emiko</au><au>Hoya, Satoshi</au><au>Orime, Naoki</au><au>Hayashi, Taketsugu</au><au>Sugiyama, Toshiro</au><au>Someya, Toshiyuki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study</atitle><jtitle>Psychiatry research</jtitle><addtitle>Psychiatry Res</addtitle><date>2015-09-30</date><risdate>2015</risdate><volume>229</volume><issue>1</issue><spage>599</spage><epage>601</epage><pages>599-601</pages><issn>0165-1781</issn><eissn>1872-7123</eissn><abstract>Abstract Two truncating variations ( WDR90 V1125fs and EFCAB5 L1210fs), identified by whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder (ASD), were not detected in 257 ASD patients, 677 schizophrenia patients or 667 controls in a follow-up study. 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| subjects | Adolescent Adult Autism Spectrum Disorder - diagnosis Autism Spectrum Disorder - genetics Child Exome - genetics Female Follow-Up Studies Genetic Predisposition to Disease - genetics Humans Japanese Male Middle Aged Pedigree Psychiatry Schizophrenia Schizophrenia - diagnosis Schizophrenia - genetics Sequence Analysis, DNA - methods Truncating variation Twins, Monozygotic - genetics Young Adult |
| title | Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study |
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