Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephaly
<p>Abstract</p> <p>Background</p> <p>Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the <it>NSD1 </it>gene, located at...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2007-11-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/8/68 |
| _version_ | 1819241757835001856 |
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| author | Delorme Richard Chaste Pauline Nygren Gudrun Cai Guiqing Buxbaum Joseph D Goldsmith Juliet Råstam Maria Silverman Jeremy M Hollander Eric Gillberg Christopher Leboyer Marion Betancur Catalina |
| author_facet | Delorme Richard Chaste Pauline Nygren Gudrun Cai Guiqing Buxbaum Joseph D Goldsmith Juliet Råstam Maria Silverman Jeremy M Hollander Eric Gillberg Christopher Leboyer Marion Betancur Catalina |
| author_sort | Delorme Richard |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the <it>NSD1 </it>gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that <it>NSD1 </it>could be involved in other cases of autism and macrocephaly.</p> <p>Methods</p> <p>We screened the <it>NSD1 </it>gene for mutations and deletions in 88 patients with autism spectrum disorders and macrocephaly (head circumference 2 standard deviations or more above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions. Dosage analysis of <it>NSD1 </it>was carried out using multiplex ligation-dependent probe amplification.</p> <p>Results</p> <p>We identified three missense variants (R604L, S822C and E1499G) in one patient each, but none is within a functional domain. In addition, segregation analysis showed that all variants were inherited from healthy parents and in two cases were also present in unaffected siblings, indicating that they are probably nonpathogenic. No partial or whole gene deletions/duplications were observed.</p> <p>Conclusion</p> <p>Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for <it>NSD1 </it>mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.</p> |
| first_indexed | 2024-12-23T14:28:59Z |
| format | Article |
| id | doaj.art-0670cdb60082441592081f29195fff94 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-23T14:28:59Z |
| publishDate | 2007-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-0670cdb60082441592081f29195fff942022-12-21T17:43:33ZengBMCBMC Medical Genetics1471-23502007-11-01816810.1186/1471-2350-8-68Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephalyDelorme RichardChaste PaulineNygren GudrunCai GuiqingBuxbaum Joseph DGoldsmith JulietRåstam MariaSilverman Jeremy MHollander EricGillberg ChristopherLeboyer MarionBetancur Catalina<p>Abstract</p> <p>Background</p> <p>Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the <it>NSD1 </it>gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that <it>NSD1 </it>could be involved in other cases of autism and macrocephaly.</p> <p>Methods</p> <p>We screened the <it>NSD1 </it>gene for mutations and deletions in 88 patients with autism spectrum disorders and macrocephaly (head circumference 2 standard deviations or more above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions. Dosage analysis of <it>NSD1 </it>was carried out using multiplex ligation-dependent probe amplification.</p> <p>Results</p> <p>We identified three missense variants (R604L, S822C and E1499G) in one patient each, but none is within a functional domain. In addition, segregation analysis showed that all variants were inherited from healthy parents and in two cases were also present in unaffected siblings, indicating that they are probably nonpathogenic. No partial or whole gene deletions/duplications were observed.</p> <p>Conclusion</p> <p>Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for <it>NSD1 </it>mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.</p>http://www.biomedcentral.com/1471-2350/8/68 |
| spellingShingle | Delorme Richard Chaste Pauline Nygren Gudrun Cai Guiqing Buxbaum Joseph D Goldsmith Juliet Råstam Maria Silverman Jeremy M Hollander Eric Gillberg Christopher Leboyer Marion Betancur Catalina Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephaly BMC Medical Genetics |
| title | Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephaly |
| title_full | Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephaly |
| title_fullStr | Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephaly |
| title_full_unstemmed | Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephaly |
| title_short | Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephaly |
| title_sort | mutation analysis of the it nsd1 it gene in patients with autism spectrum disorders and macrocephaly |
| url | http://www.biomedcentral.com/1471-2350/8/68 |
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