Objective To explore the co-prevalence rates of ASD in patients with DMD gene defects through a case study of a 6-year-old male child with autism spectrum disorder(ASD)who had a mutation in the DMD gene and a literature review,and to analyze genetic characteristics of such patients in order to improve the understanding of this subtype of ASD.Methods Chromo-somal microarray analysis was utilized to detect ASD precursors,and multiplex ligation-dependent probe amplification(MLPA)was used to validate the family lines for candidate mutations.The clinical phenotype and genotype of the patient were analyzed,and the literature on DMD muta-tions and ASD was systematically reviewed.Results The child was found to have a arr[hg 19]Xp21.1(31,518,750-31,878,971)×0 microdeletion involving exons 48-55 of the DMD gene.ML-PA validation indicated that the deletion was inherited from his mother without a disease pheno-type.A literature review revealed that the co-prevalence of ASD in patients with Becker muscular dystrophy(BMD)ranged from 0％(0/17)to 11.43％(8/70),while that of Duchenne muscular dystrophy(DMD)ranged from 0％(0/50)to 54.5％(30/55).The median co-prevalence of ASD for all cohorts of BMD(3.6％)was lower than the median co-prevalence for all cohorts of DMD(6.4％),but the difference was not statistically significant.Whether the location of the DMD gene mutations is associated with ASD pathogenesis is controversial.Conclusion The results suggest that the deletion of exon 48-55 of the DMD gene may be a common etiology for the presence of BMD and ASD in affected children.The relationship between the genotype of the DMD gene and the clinical phenotype of ASD requires further investigation.
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