Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature
© 2016 Wiley Periodicals, Inc. Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplicat...
| Main Authors: | , , , , , , |
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| Format: | Journal Article |
| Published: |
Wiley
2016
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| Online Access: | http://hdl.handle.net/20.500.11937/72859 |
| _version_ | 1848762860179554304 |
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| author | Hemming, I. Forrest, A. Shipman, P. Woodward, K. Walsh, P. Ravine, D. Heng, Julian |
| author_facet | Hemming, I. Forrest, A. Shipman, P. Woodward, K. Walsh, P. Ravine, D. Heng, Julian |
| author_sort | Hemming, I. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | © 2016 Wiley Periodicals, Inc. Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second case of such a 1q43-q44 CNV ever to be described. Our data support an association between 1q43-q44 deletions and microcephaly, as well as an association between 1q43-q44 duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43-q44 regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145-156; Nagamani et al., 2012; Eur J Hum Genet 20:176-179]. Taken together, our study reinforces the association between 1q43-q44 CNVs and brain disorder. |
| first_indexed | 2025-11-14T10:54:16Z |
| format | Journal Article |
| id | curtin-20.500.11937-72859 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T10:54:16Z |
| publishDate | 2016 |
| publisher | Wiley |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-728592018-12-13T09:34:51Z Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature Hemming, I. Forrest, A. Shipman, P. Woodward, K. Walsh, P. Ravine, D. Heng, Julian © 2016 Wiley Periodicals, Inc. Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second case of such a 1q43-q44 CNV ever to be described. Our data support an association between 1q43-q44 deletions and microcephaly, as well as an association between 1q43-q44 duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43-q44 regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145-156; Nagamani et al., 2012; Eur J Hum Genet 20:176-179]. Taken together, our study reinforces the association between 1q43-q44 CNVs and brain disorder. 2016 Journal Article http://hdl.handle.net/20.500.11937/72859 10.1002/ajmg.b.32427 Wiley restricted |
| spellingShingle | Hemming, I. Forrest, A. Shipman, P. Woodward, K. Walsh, P. Ravine, D. Heng, Julian Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature |
| title | Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature |
| title_full | Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature |
| title_fullStr | Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature |
| title_full_unstemmed | Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature |
| title_short | Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature |
| title_sort | reinforcing the association between distal 1q cnvs and structural brain disorder: a case of a complex 1q43-q44 cnv and a review of the literature |
| url | http://hdl.handle.net/20.500.11937/72859 |