An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

Journal of Cellular and Molecular Medicine

Elena Maestrini¹  Renée C. Duardo¹  Marta Viggiano¹  Elena Bacchelli¹  Cinzia Cameli¹  Fabiola Ceroni²  Alessandra Maresca³  Leonardo Caporali³  Flavia Palombo³  Valerio Carelli⁴  Claudio Fiorini⁴  Paola Visconti⁵  Maria C. Scaduto⁵  Magali J. Rochat⁵  Annio Posar⁶  Marco Seri⁷  Pamela Magini⁷ 

[1] Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy;Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK;IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italia;IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italia;Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy;UOSI Disturbi dello Spettro Autistico, Ospedale Bellaria di Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, 40139, Italy;UOSI Disturbi dello Spettro Autistico, Ospedale Bellaria di Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, 40139, Italy;Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy;Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola‐Malpighi Hospital, University of Bologna, Bologna, Italy;

关键词: ASD;    mtDNA;    NRXN1;    penetrance;    rare variants;   

DOI  :  10.1111/jcmm.16161

来源: Wiley

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