N. Kurotaki, K. Imaizumi, N. Harada, M. Masuno, T. Kondoh et al., Haploinsufficiency of NSD1 causes Sotos syndrome, Nature Genetics, vol.30, issue.4, pp.365-366, 2002.
DOI : 10.1038/ng863

N. Huang, E. Vom-baur, J. Garnier, T. Lerouge, J. Vonesch et al., Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators, The EMBO Journal, vol.17, issue.12, pp.3398-3412, 1998.
DOI : 10.1093/emboj/17.12.3398

N. Kurotaki, N. Harada, O. Shimokawa, N. Miyake, H. Kawame et al., Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion, Human Mutation, vol.18, issue.5, pp.378-387, 2003.
DOI : 10.1002/humu.10270

K. Tatton-brown, J. Douglas, K. Coleman, G. Baujat, T. Cole et al., Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations, The American Journal of Human Genetics, vol.77, issue.2, pp.193-204, 2005.
DOI : 10.1086/432082

J. Morrow, B. Whitman, and P. Accardo, Autistic disorder in Sotos syndrome: A case report, European Journal of Pediatrics, vol.5, issue.3, pp.567-569, 1990.
DOI : 10.1007/BF01957694

M. Zappella, Autistic features in children affected by cerebral gigantism, Brain Dysfunct, vol.3, pp.241-244, 1990.

P. Trad, E. Schlefer, M. Hertzig, and P. Kernberg, Treatment strategies for a case of concurrent pervasive developmental disorder and cerebral gigantism, J Am Acad Child Adolesc Psychiatry, vol.30, pp.499-506, 1991.

S. Mouridsen and M. Hansen, Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations, European Child & Adolescent Psychiatry, vol.11, issue.1, pp.43-48, 2002.
DOI : 10.1007/s007870200007

P. Bolton, M. Veltman, E. Weisblatt, J. Holmes, N. Thomas et al., Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders, Psychiatric Genetics, vol.14, issue.3, pp.131-137, 2004.
DOI : 10.1097/00041444-200409000-00002

M. Kielinen, H. Rantala, E. Timonen, and S. Linna, Associated Medical Disorders and Disabilities in Children with Autistic Disorder, Autism, vol.8, issue.1, pp.49-60, 2004.
DOI : 10.1177/1362361304040638

G. Schaefer and R. Lutz, Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders, Genet Med, vol.8, pp.549-556, 2006.

J. Miles and R. Hillman, Value of a clinical morphology examination in autism, American Journal of Medical Genetics, vol.9, issue.4, pp.245-253, 2000.
DOI : 10.1002/(SICI)1096-8628(20000410)91:4<245::AID-AJMG1>3.0.CO;2-2

A. Battaglia and J. Carey, Etiologic yield of autistic spectrum disorders: A prospective study, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.3, issue.1, pp.3-7, 2006.
DOI : 10.1002/ajmg.c.30076

S. Chakrabarti and E. Fombonne, Pervasive Developmental Disorders in Preschool Children: Confirmation of High Prevalence, American Journal of Psychiatry, vol.162, issue.6, pp.1133-1141, 2005.
DOI : 10.1176/appi.ajp.162.6.1133

J. Veenstra-vanderweele, S. Christian, E. Cook, and J. , AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER, Annual Review of Genomics and Human Genetics, vol.5, issue.1, pp.379-405, 2004.
DOI : 10.1146/annurev.genom.5.061903.180050

A. Gupta and M. State, Recent Advances in the Genetics of Autism, Biological Psychiatry, vol.61, issue.4, pp.429-437, 2007.
DOI : 10.1016/j.biopsych.2006.06.020

C. Gillberg and M. Coleman, The Biology of the Autistic Syndromes, 2000.

A. Genome and P. Consortium, Mapping autism risk loci using genetic linkage and chromosomal rearrangements, Nat Genet, vol.39, pp.319-328, 2007.

J. Sebat, B. Lakshmi, D. Malhotra, J. Troge, C. Lese-martin et al., Strong Association of De Novo Copy Number Mutations with Autism, Science, vol.316, issue.5823, pp.445-449, 2007.
DOI : 10.1126/science.1138659

E. Fombonne, B. Roge, J. Claverie, S. Courty, and J. Fremolle, Microcephaly and macrocephaly in autism, Journal of Autism and Developmental Disorders, vol.29, issue.2, pp.113-119, 1999.
DOI : 10.1023/A:1023036509476

J. Miles, L. Hadden, T. Takahashi, and R. Hillman, Head circumference is an independent clinical finding associated with autism, American Journal of Medical Genetics, vol.3, issue.4, pp.339-350, 2000.
DOI : 10.1002/1096-8628(20001211)95:4<339::AID-AJMG9>3.0.CO;2-B

D. Geschwind, J. Sowinski, C. Lord, P. Iversen, J. Shestack et al., The Autism Genetic Resource Exchange: A Resource for the Study of Autism and Related Neuropsychiatric Conditions, The American Journal of Human Genetics, vol.69, issue.2, pp.463-466, 2001.
DOI : 10.1086/321292

C. Lord, M. Rutter, L. Couteur, and A. , Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, Journal of Autism and Developmental Disorders, vol.93, issue.5, pp.659-685, 1994.
DOI : 10.1007/BF02172145

C. Gillberg, C. Gillberg, M. Rastam, and E. Wentz, The Asperger Syndrome (and High-Functioning Autism) Diagnostic Interview (ASDI): A Preliminary Study of a New Structured Clinical Interview, Autism, vol.11, issue.1, pp.57-66, 2001.
DOI : 10.1177/1362361301005001006

J. Buxbaum, G. Cai, P. Chaste, G. Nygren, J. Goldsmith et al., Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly, Am J Med Genet B Neuropsychiatr Genet, vol.144, pp.484-491, 2007.
URL : https://hal.archives-ouvertes.fr/inserm-00125293

J. Douglas, K. Tatton-brown, K. Coleman, S. Guerrero, J. Berg et al., Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification, Journal of Medical Genetics, vol.42, issue.9, p.56, 2005.
DOI : 10.1136/jmg.2005.031930

D. Waggoner, G. Raca, K. Welch, M. Dempsey, E. Anderes et al., NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory, Genetics in Medicine, vol.40, issue.8, pp.1524-533, 2005.
DOI : 10.1097/01.GIM.0000178503.15559.d3

N. Kurotaki, N. Harada, K. Yoshiura, S. Sugano, N. Niikawa et al., Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene, Gene, vol.279, issue.2, pp.197-204, 2001.
DOI : 10.1016/S0378-1119(01)00750-8

M. Cecconi, F. Forzano, D. Milani, S. Cavani, C. Baldo et al., Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth, Am J Med Genet A, vol.134, pp.247-253, 2005.

P. Saugier-veber, C. Bonnet, A. Afenjar, V. Drouin-garraud, C. Coubes et al., alterations in 116 patients with Sotos syndrome, Human Mutation, vol.7, issue.11, pp.1098-107, 2007.
DOI : 10.1002/humu.20568

P. Hoglund, N. Kurotaki, S. Kytola, N. Miyake, M. Somer et al., Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene, Journal of Medical Genetics, vol.40, issue.1, pp.51-54, 2003.
DOI : 10.1136/jmg.40.1.51

S. Turkmen, G. Gillessen-kaesbach, P. Meinecke, A. B. Neumann, L. Hesse et al., Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes, European Journal of Human Genetics, vol.11, issue.11, pp.858-865, 2003.
DOI : 10.1038/sj.ejhg.5201050

T. Tong, E. Hau, I. Lo, D. Chan, and S. Lam, Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome, Chin Med J (Engl), vol.118, pp.1499-1506, 2005.

S. Tei, S. Tsuneishi, and M. Matsuo, The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 Gene, Kobe J Med Sci, vol.52, pp.1-8, 2006.

T. Wassink, J. Piven, and S. Patil, Chromosomal abnormalities in a clinic sample of individuals with autistic disorder, Psychiatric Genetics, vol.11, issue.2, pp.57-63, 2001.
DOI : 10.1097/00041444-200106000-00001

M. Parisi, M. Dinulos, K. Leppig, V. Sybert, C. Eng et al., The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome, Journal of Medical Genetics, vol.38, issue.1, pp.52-58, 2001.
DOI : 10.1136/jmg.38.1.52

A. Goffin, L. Hoefsloot, E. Bosgoed, A. Swillen, and J. Fryns, PTEN mutation in a family with Cowden syndrome and autism, American Journal of Medical Genetics, vol.80, issue.6, pp.521-524, 2001.
DOI : 10.1002/ajmg.1477

M. Butler, M. Dasouki, X. Zhou, Z. Talebizadeh, M. Brown et al., Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations, Journal of Medical Genetics, vol.42, issue.4, pp.318-321, 2005.
DOI : 10.1136/jmg.2004.024646

G. Herman, E. Butter, B. Enrile, M. Pastore, T. Prior et al., Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly, Am J Med Genet A, vol.143, pp.589-593, 2007.

C. Gillberg and C. Forsell, Childhood psychosis and neurofibromatosis???more than a coincidence?, Journal of Autism and Developmental Disorders, vol.9, issue.1, pp.1-8, 1984.
DOI : 10.1007/BF02408551

P. Williams and J. Hersh, Brief report: the association of neurofibromatosis type 1 and autism, Journal of Autism and Developmental Disorders, vol.28, issue.6, pp.567-571, 1998.
DOI : 10.1023/A:1026012414193

M. Manning, S. Cassidy, C. Clericuzio, A. Cherry, S. Schwartz et al., Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum, PEDIATRICS, vol.114, issue.2, pp.451-457, 2004.
DOI : 10.1542/peds.114.2.451

T. Cole and H. Hughes, Autosomal dominant macrocephaly: Benign familial macrocephaly or a new syndrome?, American Journal of Medical Genetics, vol.24, issue.1, pp.115-124, 1991.
DOI : 10.1002/ajmg.1320410128

S. Naqvi, T. Cole, J. Graham, and J. , Cole-Hughes macrocephaly syndrome and associated autistic manifestations, American Journal of Medical Genetics, vol.350, issue.2, pp.149-152, 2000.
DOI : 10.1002/1096-8628(20000911)94:2<149::AID-AJMG7>3.0.CO;2-#

K. Orstavik, P. Stromme, J. Ek, A. Torvik, and O. Skjeldal, Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?, Journal of Medical Genetics, vol.34, issue.10, pp.849-851, 1997.
DOI : 10.1136/jmg.34.10.849

C. Steiner and M. Guerreiro, Marques-de-Faria AP: On macrocephaly, epilepsy, autism, specific facial features, and mental retardation, Am J Med Genet A, vol.120, pp.564-565, 2003.

E. Redcay and E. Courchesne, When Is the Brain Enlarged in Autism? A Meta-Analysis of All Brain Size Reports, Biological Psychiatry, vol.58, issue.1, pp.1-9, 2005.
DOI : 10.1016/j.biopsych.2005.03.026

J. Lainhart, J. Piven, M. Wzorek, R. Landa, S. Santangelo et al., Macrocephaly in Children and Adults With Autism, Journal of the American Academy of Child & Adolescent Psychiatry, vol.36, issue.2, pp.282-290, 1997.
DOI : 10.1097/00004583-199702000-00019

A. Bailey, P. Luthert, A. Dean, B. Harding, I. Janota et al., A clinicopathological study of autism, Brain, vol.121, issue.5, pp.889-905, 1998.
DOI : 10.1093/brain/121.5.889

J. Douglas, S. Hanks, I. Temple, S. Davies, A. Murray et al., NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes, The American Journal of Human Genetics, vol.72, issue.1, pp.1132-143, 2003.
DOI : 10.1086/345647

L. Melchior, M. Schwartz, and M. Duno, dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations - Summary of the first 100 Sotos Syndrome Mutations, Annals of Human Genetics, vol.28, issue.3, pp.222-226, 2005.
DOI : 10.1046/j.1469-1809.2004.00150.x