INTRODUCTION AND DEVELOPMENT: In this study we report on the different genetic syndromes in which autism has been described as one of the possible manifestations. CONCLUSIONS: Certain genetic syndromes are providing us with extremely valuable information about the role played by genetics in autism. This is the case of the following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis type 1, CHARGE syndrome and HEADD syndrome.
INTRODUCTION AND DEVELOPMENT: In this study we report on the different genetic syndromes in which autism has been described as one of the possible manifestations. CONCLUSIONS: Certain genetic syndromes are providing us with extremely valuable information about the role played by genetics in autism. This is the case of the following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis type 1, CHARGE syndrome and HEADD syndrome.
Authors: Ana I Alvarez Retuerto; Rita M Cantor; Joseph G Gleeson; Anna Ustaszewska; Wendy S Schackwitz; Len A Pennacchio; Daniel H Geschwind Journal: Hum Mol Genet Date: 2008-09-09 Impact factor: 6.150
Authors: Danielle C Llaneza; Susan V DeLuke; Myra Batista; Jacqueline N Crawley; Kristin V Christodulu; Cheryl A Frye Journal: Physiol Behav Date: 2010-01-21
Authors: Yuan Tian; Irina Voineagu; Sergiu P Paşca; Hyejung Won; Vijayendran Chandran; Steve Horvath; Ricardo E Dolmetsch; Daniel H Geschwind Journal: Genome Med Date: 2014-10-10 Impact factor: 11.117
Authors: Opal Ousley; A Nichole Evans; Samuel Fernandez-Carriba; Erica L Smearman; Kimberly Rockers; Michael J Morrier; David W Evans; Karlene Coleman; Joseph Cubells Journal: Int J Mol Sci Date: 2017-05-18 Impact factor: 5.923