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De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth

  • Published:2020-01-24 Issue:4 Volume:139 Page:499-512
  • ISSN:0340-6717
  • Container-title:Human Genetics
  • language:en
  • Short-container-title:Hum Genet

Author:

An YuORCID,Zhang Linna,Liu Wenwen,Jiang Yunyun,Chen Xue,Lan Xiaoping,Li Gan,Hang Qiang,Wang Jian,Gusella James F.,Du Yasong,Shen Yiping

Funder

Shanghai Municipal Science and Technology

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference38 articles.

1. Anzo M, Takahashi T, Sato S, Matsuo N (2002) The cross-sectional head circumference growth curves for Japanese from birth to 18 years of age: the 1990 and 1992–1994 national survey data. Ann Hum Biol 29:373–388. https://doi.org/10.1080/03014460110089526

2. Bernardo P, Galletta D, Iasevoli F, D'Ambrosio L, Troisi S, Gennaro E, Zara F, Striano S, de Bartolomeis A, Coppola A (2017) CHD2 mutations: only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation. Seizure-Eur J Epilepsy 51:186–189. https://doi.org/10.1016/j.seizure.2017.09.001

3. Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BB, Katsanis N, Eichler EE (2014) Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158:263–276. https://doi.org/10.1016/j.cell.2014.06.017

4. Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faive L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. https://doi.org/10.1038/S41467-018-06014-6

5. Chang X, Wang K (2012) wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet 49:433–436. https://doi.org/10.1136/jmedgenet-2012-100918
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