Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
- Lim, Elaine T.
- Uddin, Mohammed
- De Rubeis, Silvia
- Chan, Yingleong
- Kamumbu, Anne S.
- Zhang, Xiaochang
- D'Gama, Alissa M.
- Kim, Sonia N.
- Hill, Robert Sean
- Goldberg, Arthur P.
- Poultney, Christopher
- Minshew, Nancy J.
- Kushima, Itaru
- Aleksic, Branko
- Ozaki, Norio
- Parellada, Mara
- Arango, Celso
- Penzol, Maria J.
- Carracedo, Angel
- Kolevzon, Alexander
- Hultman, Christina M.
- Weiss, Lauren A.
- Fromer, Menachem
- Chiocchetti, Andreas G.
- Freitag, Christine M.
- Church, George M.
- Scherer, Stephen W.
- Buxbaum, Joseph D.
- Walsh
- Christopher AAleksic B
- Anney R
- Barbosa M
- Barrett J
- Betancur C
- Bishop S
- Brusco A
- Buxbaum JD
- Carracedo A
- Chiocchetti AG
- Chung BHY
- Cook E
- Coon H
- Cutler DJ
- Daly M
- De Rubeis S
- Doan R
- Fernández-Prieto M
- Ferrero GB
- Freitag CM
- Fromer M
- Gargus J
- Geschwind D
- Gill M
- Gómez-Guerrero L
- Hansen-Kiss E
- He X
- Herman G
- Hertz-Picciotto I
- Hultman C
- Iliadou B
- Ionita-Laza I
- Jugessur A
- Knudsen GP
- Kolevzon A
- Kosmicki J
- Kushima I
- Lee SL
- Lehner T
- Lennertz S
- Lim E
- Maciel P
- Magnus P
- Manoach D
- Minshew N
- Morrow E
- Mulle J
- Neale B
- Ozaki N
- Palotie A
- Parellada M
- Passos-Bueno MR
- Pericak-Vance M
- Persico A
- Pessah I
- Reichenberg A
- Reichert J
- Renieri A
- Robinson E
- Samocha K
- Sanders S
- Sandin S
- Santangelo SL
- Satterstrom K
- Schafer C
- Schellenberg G
- Scherer S
- Senthil G
- Silva M
- Singh T
- Siper PM
- Soares G
- Stevens C
- Stoltenberg C
- Surén P
- Sutcliffe JS
- Szatmari P
- Tassone F
- Thurm A
- Walsh C
- Weiss L
- Werling D
- Willsey J
- Xu X
- Yu TW
- Yuen R
- Zwick ME.
DOIAbstract
We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (P < 1 Ã 10-6), and genes carrying these PZMs were enriched for expression in the amygdala (P = 5.4 Ã 10-3). Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU and SMARCA...
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