RT Journal Article SR Electronic T1 Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP jmedgenet-2021-107954 DO 10.1136/jmedgenet-2021-107954 A1 Clément Desjardins A1 Frédéric Caux A1 Bertrand Degos A1 Djallel Benzohra A1 Astrid De Liège A1 Gérôme Bohelay A1 Michel Longy A1 Chloé Béreaux A1 Béatrice Garcin YR 2021 UL http://jmg.bmj.com/content/early/2021/12/21/jmedgenet-2021-107954.abstract AB Purpose Cowden syndrome (CS) is an autosomal dominant disease related to germline PTEN variants and is characterised by multiple hamartomas, increased risk of cancers and frequent brain alteration. Since the behaviour of patients with CS sometimes appears to be inappropriate, we analysed their neuropsychological functioning.Methods This monocentric study was conducted between July 2018 and February 2020. A standardised neuropsychological assessment, including an evaluation of social cognition, executive functions, language and dexterity, as well as a cerebral MRI were systematically proposed to all patients with CS. Moreover, PTEN variants were identified.Results Fifteen patients from 13 families were included, with six non-sense (40%), three missense (20%), five frameshift (33.3%) and one splice site (6.6%) variant types. Twelve patients (80%) had altered social cognition: 10 patients had an abnormal modified Faux-Pas score and 5 had Ekman’s facial emotions recognition impairment. Nearly all patients (93%) had impaired dexterity. Cerebral MRI showed various cerebellar anomalies in seven patients (46.7%).Conclusion Altered social cognition and impaired fine dexterity are frequently associated with CS. Further studies are needed to confirm these results and to determine whether dexterity impairment is due to the effect of germline PTEN variants in the cerebellum.Data are available upon reasonable request. Data contain sensitive patient informations: demographic and genetic data. To obtain them, please contact the corresponding author.