Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

  title={Chromosomal contacts connect loci associated with autism, BMI and head
circumference phenotypes},
  author={Maria Nicla Loviglio and Marion Leleu and Katrin M{\"a}nnik and Marzia Passeggeri and Giuliana Giannuzzi and Ilse van der Werf and Sebastian M. Waszak and Marianna Zazhytska and In{\^e}s Roberts-Caldeira and Nele Gheldof and Eugenia Migliavacca and Ali Abdullah Alfaiz and Loyse Hippolyte and Anne M Maillard and Anke van Dijck and R. Frank Kooy and Damien Sanlaville and Jill A Rosenfeld and Lisa G. Shaffer and Joris Andrieux and Christian Marshall and Stephen W. Scherer and Yun A. Shen and James F. Gusella and Unnur Thorsteinsdottir and Gudmar Thorleifsson and Emmanouil T. Dermitzakis and Bart Deplancke and Jacques S. Beckmann and Jacques Rougemont and S{\'e}bastien Jacquemont and Alexandre Reymond and Alessandra Ferrarini and Florence Niel Butschi and Bernard Conrad and Marie-Claude Addor and Marco Belfiore and Katharina Roetzer and Anke Van Dijck and Bettina Blaumeiser and Frank Kooy and Filip Roelens and Annelies Dheedene and Barbara Delle Chiaie and Bj{\"o}rn Menten and Ann Oostra and Melissa C Carter and Barbara Kellam and Dimitri J Stavropoulos and Rosanna A Weksberg and Cheryl Cytrynbaum and Anne S. Bassett and Chelsea Lowther and Jane M. Gillis and Sara Mackay and Iben Bache and Lilian Bomme Ousager and Maja Patricia Smerdel and Jesper Graakjaer and Susanne Kjaergaard and Andres Metspalu and M. Hildebrand Mathieu and D. Bonneau and Agn{\`e}s Guichet and Philippe Parent and Greg Conf. Sec. Smith and M Cooney Gerard and Ghislaine Plessis and James Lespinasse and Alice Masurel and Nathalie Marle and Laurence Faivre and Patrick Callier and Val{\'e}rie Layet and Nathalie Le Meur and C{\'e}line Le Goff and B{\'e}n{\'e}dicte Duban-Bedu and Sylvie Sukno and Odile Boute and Patricia Blanchet and Anouck Schneider and Bruno P. Leheup and Philippe Jonveaux and Sandra Mercier and Albert David and Cedric Le Caignec and Loic de Pontual and Eva Pipiras and Aur{\'e}lia Jacquette and Boris Keren and Brigitte Gilbert-Dussardier and Fr{\'e}d{\'e}ric Bilan and Alice Goldenberg and Pascal Chambon and Annick Toutain and Barbara Leube and Brigitte Royer-Pokora and Hans J{\"o}rgen Grabe and Carsten Oliver Schmidt and Claudia Schurmann and Georg Homuth and Laura Bernardini and Antonio Novelli and Lucia Micale and Giuseppe Merla and Marcella Zollino and Francesca Mari and Caterina Lo Rizzo and Alessandra Renieri and Margherita Cirillo Silengo and Anneke T. Vulto-van Silfhout and Meyke I Schouten and Rolph Pfundt and Nicole de Leeuw and Fleur Vansenne and Saskia M. Maas and Daniela Barge-Schaapveld and A. C. Lia Knegt and Barbro Foss{\o}y Stadheim and Olaug Rodningen and Gunnar Houge and Sue Price and Lara Hawkes and Carolyn Evans Campbell and Usha Kini and Julie N. Vogt and Robin G. Walters and Alexandra I. F. Blakemore and Yiping Shen and Daryl Michael Scott and Carlos A Bacino and Karen Tsuchiya and Roger L. Ladda and Susan L. Sell and Alexander Asamoah and Aline I. Hamati and Elyse Mitchell and Jennelle C. Hodge and Lisa Jean Ewans and David Mowat and Jan L. Walker and David J Amor and Hilde van Esch and Patricia Leroy and J Caberg and John-Steven Bamforth and D G Satish Babu and Marianne Till and David Genevi{\`e}ve and Jacques Puechberty and Bertrand Isidor and Nataliya Didonato and Karl Hackmann and Arie van Haeringen and Lisa G Shaffer and Rosemarie Smith and Sara S Ellingwood and Darren M. Farber and Vinay Puri and N Aghamohammad Zadeh and David D Weaver and Mandy A Miller and Timothy M Wilks and Carolina J Jorgez and Stefan J. Scherer},
  booktitle={Molecular Psychiatry},
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV… CONTINUE READING
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