Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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Nature Research
2019
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| _version_ | 1826261392783572992 |
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| author | D'Abate, L Walker, S Yuen, RKC Tammimies, K Buchanan, JA Davies, RW Thiruvahindrapuram, B Wei, J Brian, J Bryson, SE Dobkins, K Howe, J Landa, R Leef, J Messinger, D Ozonoff, S Smith, IM Stone, WL Warren, ZE Young, G Zwaigenbaum, L Scherer, SW |
| author_facet | D'Abate, L Walker, S Yuen, RKC Tammimies, K Buchanan, JA Davies, RW Thiruvahindrapuram, B Wei, J Brian, J Bryson, SE Dobkins, K Howe, J Landa, R Leef, J Messinger, D Ozonoff, S Smith, IM Stone, WL Warren, ZE Young, G Zwaigenbaum, L Scherer, SW |
| author_sort | D'Abate, L |
| collection | OXFORD |
| description | Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically. |
| first_indexed | 2024-03-06T19:20:42Z |
| format | Journal article |
| id | oxford-uuid:19fe0767-cd5f-4a46-bead-563a6dab9624 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:20:42Z |
| publishDate | 2019 |
| publisher | Nature Research |
| record_format | dspace |
| spelling | oxford-uuid:19fe0767-cd5f-4a46-bead-563a6dab96242022-03-26T10:52:13ZPredictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disordersJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:19fe0767-cd5f-4a46-bead-563a6dab9624EnglishSymplectic ElementsNature Research2019D'Abate, LWalker, SYuen, RKCTammimies, KBuchanan, JADavies, RWThiruvahindrapuram, BWei, JBrian, JBryson, SEDobkins, KHowe, JLanda, RLeef, JMessinger, DOzonoff, SSmith, IMStone, WLWarren, ZEYoung, GZwaigenbaum, LScherer, SWIdentification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically. |
| spellingShingle | D'Abate, L Walker, S Yuen, RKC Tammimies, K Buchanan, JA Davies, RW Thiruvahindrapuram, B Wei, J Brian, J Bryson, SE Dobkins, K Howe, J Landa, R Leef, J Messinger, D Ozonoff, S Smith, IM Stone, WL Warren, ZE Young, G Zwaigenbaum, L Scherer, SW Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders |
| title | Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders |
| title_full | Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders |
| title_fullStr | Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders |
| title_full_unstemmed | Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders |
| title_short | Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders |
| title_sort | predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders |
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