P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

• Angela Peron,
• Rosa Maria Alfano,
• Barry Moore,
• Mark Nellist,
• Brent Pedersen,
• Francesca La Briola,
• Luigina Spaccini,
• Federica Natacci,
• Maria Paola Recalcati,
• Valentina Chiesa,
• Rosangela Arancio,
• Ugo Cavallari,
• Chiara Vannicola,
• Graziella Cefalo,
• Silvia Maitz,
• Stefania Bigoni,
• Lorenzo Gualandri,
• Cristina Gervasini,
• Pierangelo Veggiotti,
• Wilfred van Ijcken,
• Aglaia Vignoli,
• Gaetano Pietro Bulfamante,
• John Carey,
• Maria Paola Canevini

Affiliations

Angela Peron

Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy and Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Rosa Maria Alfano

Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy

Barry Moore

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT

Mark Nellist

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands

Brent Pedersen

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT

Francesca La Briola

Child Neuropsychiatry Unit - Epilepsy Center, ASST Santi Paolo e Carlo, Milan, Italy

Luigina Spaccini

Clinical Genetics, Department of Obstetrics and Gynecology, Vittore Buzzi Children's Hospital, Milan, Italy

Federica Natacci

Medical Genetics Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

Maria Paola Recalcati

Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy

Valentina Chiesa

Child Neuropsychiatry Unit - Epilepsy Center, ASST Santi Paolo e Carlo, Milan, Italy

Rosangela Arancio

Pediatrics Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy

Ugo Cavallari

Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy

Chiara Vannicola

Child Neuropsychiatry Unit - Epilepsy Center, ASST Santi Paolo e Carlo, Milan, Italy

Graziella Cefalo

Pediatrics Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy

Silvia Maitz

Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy

Stefania Bigoni

Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy

Lorenzo Gualandri

Dermatology, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy

Cristina Gervasini

Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy

Pierangelo Veggiotti

Pediatric Neurology Unit, Vittore Buzzi Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy

Wilfred van Ijcken

Center for Biomics and Department of Cell Biology, Erasmus Medical Center, Rotterdam, The Netherlands

Aglaia Vignoli

Department of Health Sciences, Università degli Studi di Milano, Milan, Italy and Child Neuropsychiatry Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy

Gaetano Pietro Bulfamante

Department of Health Sciences, Università degli Studi di Milano, Milan, Italy

John Carey

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Maria Paola Canevini

Department of Health Sciences, Università degli Studi di Milano, Milan, Italy and Child Neuropsychiatry Unit - Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy