Maternally inherited genetic variants of CADPS 2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Author:

Bonora Elena1,Graziano Claudio1,Minopoli Fiorella12,Bacchelli Elena2,Magini Pamela1,Diquigiovanni Chiara1,Lomartire Silvia2,Bianco Francesca1,Vargiolu Manuela1,Parchi Piero3,Marasco Elena4,Mantovani Vilma14,Rampoldi Luca5,Trudu Matteo5,Parmeggiani Antonia3,Battaglia Agatino6,Mazzone Luigi7,Tortora Giada1,Maestrini Elena2,Seri Marco1,Romeo Giovanni1,

Affiliation:

1. Unit of Medical Genetics Department of Medical and Surgical Sciences S. Orsola‐Malpighi Hospital University of Bologna Bologna Italy

2. Department of Pharmacy and Biotechnology University of Bologna Bologna Italy

3. Department of Neurology University of Bologna Bologna Italy

4. CRBA, S. Orsola‐Malpighi Hospital Bologna Italy

5. Molecular Genetics of Renal Disorders Unit Division of Genetics and Cell Biology San Raffaele Scientific Institute Milan Italy

6. Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry Calambrone (Pisa) Italy

7. Unit of Child Neuropsychiatry IRCCS Ospedale Pediatrico Bambino Gesù Roma Italy

Publisher

EMBO

Subject

Molecular Medicine

Reference45 articles.

1. AdzhubeiI JordanDM SunyaevSR(2013)Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2. Current protocols in human genetics/editorial board Jonathan L Haines [et al.] Chapter 7:Unit7 20.

2. Prevalence of autism spectrum disorders ‐ Autism and Developmental Disabilities Monitoring Network, United States, 2006;Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators; Centers for Disease Control and Prevention C;MMWR Surveill Summ,2009

3. Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS)

4. Genetic and Epigenetic Networks in Intellectual Disabilities

5. Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

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