PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review
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 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,...
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ژورنال
عنوان ژورنال: Medical Journal of The Islamic Republic of Iran
سال: 2019
ISSN: 1016-1430,2251-6840
DOI: 10.47176/mjiri.33.10