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Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

Journal article
Authors Joseph. D. Buxbaum
Guiqing Cai
Gudrun Nygren
Pauline Chaste
Richard Delorme
Juliet Goldsmith
Maria Råstam
Jeremy. M. Silverman
Eric Hollander
Christopher Gillberg
Marion Leboyer
Catalina Betancur
Published in BMC Medical Genetics
Volume 8
Pages 68
ISSN 1471-2350
Publication year 2007
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 68
Language en
Links 10.1186/1471-2350-8-68
Keywords Adolescent, Adult, Amino Acid Substitution, Genetics, Autistic Disorder, Genetics, Child, Child, Preschool, Craniofacial Abnormalities, Genetics, DNA Mutational Analysis, Female, Genetic Testing, Humans, Intracellular Signaling Peptides and Proteins, Genetics, Male, Nuclear Proteins, Genetics, Syndrome
Subject categories Psychiatry


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. CONCLUSIONS: 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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