Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.
Identifieur interne : 000608 ( Hal/Checkpoint ); précédent : 000607; suivant : 000609Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.
Auteurs : Joseph Buxbaum [États-Unis] ; Guiqing Cai [États-Unis] ; Gudrun Nygren [Suède] ; Pauline Chaste [France] ; Richard Delorme [France] ; Juliet Goldsmith [États-Unis] ; Maria R Stam [Suède] ; Jeremy Silverman [États-Unis] ; Eric Hollander [États-Unis] ; Christopher Gillberg [Suède] ; Marion Leboyer [France] ; Catalina Betancur [France]Source :
- BMC Medical Genetics [ 1471-2350 ] ; 2007.
Abstract
BACKGROUND: 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 NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly. METHODS: We screened the NSD1 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 NSD1 was carried out using multiplex ligation-dependent probe amplification. RESULTS: 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. CONCLUSION: Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.
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DOI: 10.1186/1471-2350-8-68
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<idno type="DOI">10.1186/1471-2350-8-68</idno>
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<front><div type="abstract" xml:lang="en">BACKGROUND: 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 NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly. METHODS: We screened the NSD1 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 NSD1 was carried out using multiplex ligation-dependent probe amplification. RESULTS: 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. CONCLUSION: Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.</div>
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<funder>This work was supported by the Beatrice & Samuel A. Seaver Foundation, the Milton & Miriam Handler Foundation, NIH (grants MH066673 and NS042165), INSERM, Assistance Publique-Hôpitaux de Paris, Fondation pour la Recherche Médicale, Fondation de France, Fondation France Télécom, and the Swedish Science Council. Dr. Joseph Buxbaum is the G. Harold and Leila Y. Mathers Research Professor at Mount Sinai School of Medicine.</funder>
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<abstract xml:lang="en">BACKGROUND: 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 NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly. METHODS: We screened the NSD1 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 NSD1 was carried out using multiplex ligation-dependent probe amplification. RESULTS: 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. CONCLUSION: Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.</abstract>
<particDesc> <org type="consortium">Paris Autism Research International Sibpair (PARIS) Study</org>
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