Research progress on the genetics of autism spectrum disorder

LI Sheng; JIANG Hong; FEI An-xing; ZOU Tian-tian

doi:10.11852/zgetbjzz2019-0454

PDF(485 KB)

Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (1) : 45-47. DOI: 10.11852/zgetbjzz2019-0454

Research progress on the genetics of autism spectrum disorder

LI Sheng, JIANG Hong, FEI An-xing, ZOU Tian-tian

Author information +

History +

Abstract

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors,repetitive and stereotyped behaviors.ASD children usually have cognitive and emotional disorders,mainly caused by factors such as early development,genetic and abnormal brain functions.This review combs the advances in genetics of ASD.

Key words

autism spectrum disorder / genetic disease / chromosome / gene copy numbers

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

LI Sheng, JIANG Hong, FEI An-xing, ZOU Tian-tian. Research progress on the genetics of autism spectrum disorder[J]. Chinese Journal of Child Health Care. 2020, 28(1): 45-47 https://doi.org/10.11852/zgetbjzz2019-0454

References

[1] Flax J,Gwin C,Wilson S,et al.Social (pragmatic) communication disorder:another name for the broad autism phenotype?[M].Autism,2019.doi:10.1177/1362361318822503.
[2]Lai MC,Lombardo MV,Baron-Cohen S.Autism[J].Lancet,2014,383(9920):896-910.
[3]American Psychiatric Association.Diagnostic and statistical manual of mental disorders fifth edition[M].Arlington VA:American Psychiatric Association,2013.
[4] 中国自闭症教育康复行业发展状况报告[M].北京师范大学出版社,2015.
[5] 钟洁琼,孙瑞泽.孤独症谱系障碍的融合教育分析[J].中国妇幼保健,2019,34(4):965-967.
[6] 余纷纷,李勤,徐丽佳,等.自闭症儿童典型临床表现及综合干预措施研究现状[J].世界最新医学信息文摘,2018,18(55):80-81.
[7] Canitano R.Epilepsy in autism spectrum disorders[J].Eur Child Adolesc Psychiatry,2007,16(1):61-66.
[8]Yasuhara A.Correlation between EEG abnormalities and symptoms of autism spectrum disorder (ASD)[J].Brain Dev,2010,32(10):791-798.
[9]Rosenberg RE,Law JK,Yenokyan G,et al.Characteristics and concordance of autism spectrum disorders among 277 twin pairs[J].Arch Pediatr Adolesc Med,2009,163(10):907-914.
[10] Ozonoff S,Young GS,Carter A,et al.Recurrence risk for autism spectrum disorders:a baby siblings research consortium study[J].Pediatrics,2011,128(3):e488-e495.
[11] Vorstman JA,Staal WG,van Daalen E,et al.Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism[J].Mol Psychiatry,2006,11(1):18-28.
[12] Gau SS,Liao HM,Hong CC,et al.Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism[J].Am J Med Genet B Neuropsychiatr Genet,2012,159B(6):710-717.
[13] Menold MM,Shao Y,Wolpert CM,et al.Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder[J].J Neurogenet,2001,15(3-4):245-259.
[14] Devlin B,Scherer SW.Genetic architecture in autism spectrum disorder[J].Curr Opin Genet Dev,2012,22(3):229-237.
[15] Ascano MJ,Mukherjee N,Bandaru P,et al.FMRP targets distinct mRNA sequence elements to regulate protein expression[J].Nature,2012,492(7429):382-386.
[16] Liu X,Takumi T.Genomic and genetic aspects of autism spectrum disorder[J].Biochem Bioph Res Co,2014,452(2):244-253.
[17] Herman GE,Butter E,Enrile B,et al.Increasing knowledge of PTEN germline mutations:two additional patients with autism and macrocephaly[J].Am J Med Genet A,2007,143A(6):589-593.
[18]Caglayan AO.Genetic causes of syndromic and non-syndromic autism[J].Dev Med Child Neurol,2010,52(2):130-138.
[19] Sebat J,Lakshmi B,Malhotra D,et al.Strong association of de novo copy number mutations with autism[J].Science,2007,316(5823):445-449.
[20] Cotney J,Muhle RA,Sanders SJ,et al.The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment[J].Nat Commun,2015,6:6404.
[21] Ebert DH,Greenberg ME.Activity-dependent neuronalsignalling and autism spectrum disorder[J].Nature,2013,493(7432):327-337.
[22] O′Roak BJ,Deriziotis P,Lee C,et al.Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations[J].Nat Genet,2011,43(6):585-589.
[23] O′Roak BJ,Vives L,Girirajan S,et al.Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations[J].Nature,2012,485(7397):246-250.
[24] Iossifov I,Ronemus M,Levy D,et al.De novo gene disruptions in children on the autistic spectrum[J].Neuron,2012,74(2):285-299.
[25] Neale BM,Kou Y,Liu L,et al.Patterns and rates ofexonic de novo mutations in autism spectrum disorders[J].Nature,2012,485(7397):242-245.
[26] Bi C,Wu J,Jiang T,et al.Mutations of ANK3 identified byexome sequencing are associated with autism susceptibility[J].Hum Mutat,2012,33(12):1635-1638.
[27] Turner TN,Hormozdiari F,Duyzend MH,et al.Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA[J].Am J Hum Genet,2016,98(1):58-74.
[28] Battaglia A,Doccini V,Bernardini L,et al.Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay,intellectual disability,autism spectrum disorders and dysmorphic features[J].Eur J Paediatr Neurol,2013,17(6):589-599.
[29] Schaefer GB,Mendelsohn NJ.Clinical genetics evaluation in identifying the etiology of autism spectrum disorders:2013 guideline revisions[J].Genet Med,2013,15(5):399-407.