Mutation screening of thePTEN gene in patients with autism spectrum disorders and macrocephaly
نویسندگان
چکیده
منابع مشابه
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patient...
متن کاملSocial Competence in Children with Learning and Autism Spectrum Disorders
Objective: The present study has been carried out to compare the social competence in two groups of students with Autism Disorder (AD) and Learning Disorders (LD). Methods: This research was a kind of descriptive research with 2 comparative groups. 90 learning and Autistic disorder students aged 10 to 13 years (45 LD & 45 AD) were selected randomly as a statistical sample. For the assessment...
متن کاملMutation analysis of the NRXN1 gene in autism spectrum disorders
The aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two di...
متن کاملMutation screening of the ARX gene in patients with autism.
Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened ...
متن کاملSubset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly. Therefore,...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
سال: 2007
ISSN: 1552-4841,1552-485X
DOI: 10.1002/ajmg.b.30493