(19)
(11) EP 3 149 211 A1

(12)

(43) Date of publication:
05.04.2017 Bulletin 2017/14

(21) Application number: 15829843.0

(22) Date of filing: 28.07.2015
(51) International Patent Classification (IPC): 
C12Q 1/68(2006.01)
(86) International application number:
PCT/US2015/042354
(87) International publication number:
WO 2016/022324 (11.02.2016 Gazette 2016/06)
(84) Designated Contracting States:
AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
Designated Extension States:
BA ME
Designated Validation States:
MA

(30) Priority: 30.05.2014 US 201414292480
10.07.2014 US 201414131359

(71) Applicant: The Children's Hospital of Philadelphia
Philadelphia, PA 19104 (US)

(72) Inventors:
  • HAKONARSON, Hakon
    Malvern, PA 19355 (US)
  • WENGER, Tara
    Philadelphia, PA 19143 (US)
  • KAO, Charlly
    Philadelphia, PA 19143 (US)
  • HADLEY, Dexter
    Philadelphia, PA 19128 (US)
  • WU, Zhi-liang
    Fort Washington, PA 19304 (US)
  • GLESSNER, Joseph
    Philadelphia, PA 08062 (US)

(74) Representative: Høiberg P/S 
Adelgade 12
1304 Copenhagen K
1304 Copenhagen K (DK)

   


(54) GENETIC ALTERATIONS ASSOCIATED WITH AUTISM AND AUTISTIC PHENOTYPE AND METHODS OF DIAGNOSING AND TREATING AUTISM