Genotype-phenotype analysis in the early diagnosis of autism spectrum disorder

GAO Yan; HONG Qi; WU Hui-dan; GUO Hui; JIANG Tao-tao; XIA Hui-yun; MA Xiao-ying; DING Bi-lan; ZHUO Xiu-hui; BAI Ting

doi:10.11852/zgetbjzz2018-26-07-10

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Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (7) : 733-736. DOI: 10.11852/zgetbjzz2018-26-07-10

Genotype-phenotype analysis in the early diagnosis of autism spectrum disorder

GAO Yan¹ , HONG Qi¹, WU Hui-dan², GUO Hui², JIANG Tao-tao¹, XIA Hui-yun¹,
MA Xiao-ying¹, DING Bi-lan¹, ZHUO Xiu-hui¹, BAI Ting²

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Abstract

Objective To discuss the application of phenotype and genotype of patients in the early diagnosis of autism spectrum disorder(ASD). Methods Physical examination, clinical evaluations were carried out in 122 patients, together by using G-banding karyotype analysis and molecular inversion probe. Results A mutational patient was present with typical autistic symptoms, severe intellectual disability, behavioral problems and the history of hypotonia and motor delay as well as corpus callosum hypoplasia and ventricular enlargement. A de novo frameshift mutation in the autism-related gene (DDX3X) was identified in the patient. There was an inverted 9 chromosome and the karyotype designation is 46, XX, inv(9) (p12q13). Conclusion The mutations of DDX3X are important risk factors of ASD which cause frequently multiple impairments of neurodevelopment and have differential effect by gender. The study of phenotype and genotype will provide important information for early warning and diagnosis in clinical.

Key words

autism spectrum disorder / DDX3X gene / molecular inversion probe / genotype / phenotype

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GAO Yan , HONG Qi, WU Hui-dan, GUO Hui, JIANG Tao-tao, XIA Hui-yun,
MA Xiao-ying, DING Bi-lan, ZHUO Xiu-hui, BAI Ting. Genotype-phenotype analysis in the early diagnosis of autism spectrum disorder[J]. Chinese Journal of Child Health Care. 2018, 26(7): 733-736 https://doi.org/10.11852/zgetbjzz2018-26-07-10

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