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Copy number variation in fetal alcohol spectrum disorder
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| Zeitschriftentitel: | Biochemistry and Cell Biology |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , |
| In: | Biochemistry and Cell Biology, 96, 2018, 2, S. 161-166 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Canadian Science Publishing
|
| Schlagwörter: |
| author_facet |
Zarrei, Mehdi Hicks, Geoffrey G. Reynolds, James N. Thiruvahindrapuram, Bhooma Engchuan, Worrawat Pind, Molly Lamoureux, Sylvia Wei, John Wang, Zhouzhi Marshall, Christian R. Wintle, Richard F. Chudley, Albert E. Scherer, Stephen W. Zarrei, Mehdi Hicks, Geoffrey G. Reynolds, James N. Thiruvahindrapuram, Bhooma Engchuan, Worrawat Pind, Molly Lamoureux, Sylvia Wei, John Wang, Zhouzhi Marshall, Christian R. Wintle, Richard F. Chudley, Albert E. Scherer, Stephen W. |
|---|---|
| author |
Zarrei, Mehdi Hicks, Geoffrey G. Reynolds, James N. Thiruvahindrapuram, Bhooma Engchuan, Worrawat Pind, Molly Lamoureux, Sylvia Wei, John Wang, Zhouzhi Marshall, Christian R. Wintle, Richard F. Chudley, Albert E. Scherer, Stephen W. |
| spellingShingle |
Zarrei, Mehdi Hicks, Geoffrey G. Reynolds, James N. Thiruvahindrapuram, Bhooma Engchuan, Worrawat Pind, Molly Lamoureux, Sylvia Wei, John Wang, Zhouzhi Marshall, Christian R. Wintle, Richard F. Chudley, Albert E. Scherer, Stephen W. Biochemistry and Cell Biology Copy number variation in fetal alcohol spectrum disorder Cell Biology Molecular Biology Biochemistry |
| author_sort |
zarrei, mehdi |
| spelling |
Zarrei, Mehdi Hicks, Geoffrey G. Reynolds, James N. Thiruvahindrapuram, Bhooma Engchuan, Worrawat Pind, Molly Lamoureux, Sylvia Wei, John Wang, Zhouzhi Marshall, Christian R. Wintle, Richard F. Chudley, Albert E. Scherer, Stephen W. 0829-8211 1208-6002 Canadian Science Publishing Cell Biology Molecular Biology Biochemistry http://dx.doi.org/10.1139/bcb-2017-0241 <jats:p> Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2.5 SNP (single nucleotide polymorphisms) array platform. We compared their CNVs with those of 10 851 population controls to identify rare CNVs (<0.1% frequency), which may include large unbalanced chromosomal abnormalities, that might be relevant to FASD. In 12/95 (13%) of the FASD cases, rare CNVs were found that impact potentially clinically relevant developmental genes, including the CACNA1H involved in epilepsy and autism, the 3q29 deletion disorder, and others. Our results show that a subset of children diagnosed with FASD have chromosomal deletions and duplications that may co-occur or explain the neurodevelopmental impairments in a diagnosed cohort of FASD individuals. Children suspected to have FASD with or without sentinel facial features of fetal alcohol syndrome and neurodevelopmental delays should potentially be evaluated by a clinical geneticist and possibly have genetic investigations as appropriate to exclude other etiologies. </jats:p> Copy number variation in fetal alcohol spectrum disorder Biochemistry and Cell Biology |
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Canadian Science Publishing, 2018 |
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Canadian Science Publishing, 2018 |
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0829-8211 1208-6002 |
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| title |
Copy number variation in fetal alcohol spectrum disorder |
| title_unstemmed |
Copy number variation in fetal alcohol spectrum disorder |
| title_full |
Copy number variation in fetal alcohol spectrum disorder |
| title_fullStr |
Copy number variation in fetal alcohol spectrum disorder |
| title_full_unstemmed |
Copy number variation in fetal alcohol spectrum disorder |
| title_short |
Copy number variation in fetal alcohol spectrum disorder |
| title_sort |
copy number variation in fetal alcohol spectrum disorder |
| topic |
Cell Biology Molecular Biology Biochemistry |
| url |
http://dx.doi.org/10.1139/bcb-2017-0241 |
| publishDate |
2018 |
| physical |
161-166 |
| description |
<jats:p> Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2.5 SNP (single nucleotide polymorphisms) array platform. We compared their CNVs with those of 10 851 population controls to identify rare CNVs (<0.1% frequency), which may include large unbalanced chromosomal abnormalities, that might be relevant to FASD. In 12/95 (13%) of the FASD cases, rare CNVs were found that impact potentially clinically relevant developmental genes, including the CACNA1H involved in epilepsy and autism, the 3q29 deletion disorder, and others. Our results show that a subset of children diagnosed with FASD have chromosomal deletions and duplications that may co-occur or explain the neurodevelopmental impairments in a diagnosed cohort of FASD individuals. Children suspected to have FASD with or without sentinel facial features of fetal alcohol syndrome and neurodevelopmental delays should potentially be evaluated by a clinical geneticist and possibly have genetic investigations as appropriate to exclude other etiologies. </jats:p> |
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| author | Zarrei, Mehdi, Hicks, Geoffrey G., Reynolds, James N., Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Pind, Molly, Lamoureux, Sylvia, Wei, John, Wang, Zhouzhi, Marshall, Christian R., Wintle, Richard F., Chudley, Albert E., Scherer, Stephen W. |
| author_facet | Zarrei, Mehdi, Hicks, Geoffrey G., Reynolds, James N., Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Pind, Molly, Lamoureux, Sylvia, Wei, John, Wang, Zhouzhi, Marshall, Christian R., Wintle, Richard F., Chudley, Albert E., Scherer, Stephen W., Zarrei, Mehdi, Hicks, Geoffrey G., Reynolds, James N., Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Pind, Molly, Lamoureux, Sylvia, Wei, John, Wang, Zhouzhi, Marshall, Christian R., Wintle, Richard F., Chudley, Albert E., Scherer, Stephen W. |
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| description | <jats:p> Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2.5 SNP (single nucleotide polymorphisms) array platform. We compared their CNVs with those of 10 851 population controls to identify rare CNVs (<0.1% frequency), which may include large unbalanced chromosomal abnormalities, that might be relevant to FASD. In 12/95 (13%) of the FASD cases, rare CNVs were found that impact potentially clinically relevant developmental genes, including the CACNA1H involved in epilepsy and autism, the 3q29 deletion disorder, and others. Our results show that a subset of children diagnosed with FASD have chromosomal deletions and duplications that may co-occur or explain the neurodevelopmental impairments in a diagnosed cohort of FASD individuals. Children suspected to have FASD with or without sentinel facial features of fetal alcohol syndrome and neurodevelopmental delays should potentially be evaluated by a clinical geneticist and possibly have genetic investigations as appropriate to exclude other etiologies. </jats:p> |
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| issn | 0829-8211, 1208-6002 |
| issn_str_mv | 0829-8211, 1208-6002 |
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| last_indexed | 2024-03-01T14:41:16.691Z |
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| spelling | Zarrei, Mehdi Hicks, Geoffrey G. Reynolds, James N. Thiruvahindrapuram, Bhooma Engchuan, Worrawat Pind, Molly Lamoureux, Sylvia Wei, John Wang, Zhouzhi Marshall, Christian R. Wintle, Richard F. Chudley, Albert E. Scherer, Stephen W. 0829-8211 1208-6002 Canadian Science Publishing Cell Biology Molecular Biology Biochemistry http://dx.doi.org/10.1139/bcb-2017-0241 <jats:p> Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2.5 SNP (single nucleotide polymorphisms) array platform. We compared their CNVs with those of 10 851 population controls to identify rare CNVs (<0.1% frequency), which may include large unbalanced chromosomal abnormalities, that might be relevant to FASD. In 12/95 (13%) of the FASD cases, rare CNVs were found that impact potentially clinically relevant developmental genes, including the CACNA1H involved in epilepsy and autism, the 3q29 deletion disorder, and others. Our results show that a subset of children diagnosed with FASD have chromosomal deletions and duplications that may co-occur or explain the neurodevelopmental impairments in a diagnosed cohort of FASD individuals. Children suspected to have FASD with or without sentinel facial features of fetal alcohol syndrome and neurodevelopmental delays should potentially be evaluated by a clinical geneticist and possibly have genetic investigations as appropriate to exclude other etiologies. </jats:p> Copy number variation in fetal alcohol spectrum disorder Biochemistry and Cell Biology |
| spellingShingle | Zarrei, Mehdi, Hicks, Geoffrey G., Reynolds, James N., Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Pind, Molly, Lamoureux, Sylvia, Wei, John, Wang, Zhouzhi, Marshall, Christian R., Wintle, Richard F., Chudley, Albert E., Scherer, Stephen W., Biochemistry and Cell Biology, Copy number variation in fetal alcohol spectrum disorder, Cell Biology, Molecular Biology, Biochemistry |
| title | Copy number variation in fetal alcohol spectrum disorder |
| title_full | Copy number variation in fetal alcohol spectrum disorder |
| title_fullStr | Copy number variation in fetal alcohol spectrum disorder |
| title_full_unstemmed | Copy number variation in fetal alcohol spectrum disorder |
| title_short | Copy number variation in fetal alcohol spectrum disorder |
| title_sort | copy number variation in fetal alcohol spectrum disorder |
| title_unstemmed | Copy number variation in fetal alcohol spectrum disorder |
| topic | Cell Biology, Molecular Biology, Biochemistry |
| url | http://dx.doi.org/10.1139/bcb-2017-0241 |