Objective To analyze the genetic etiology of a GM1 ganglioside storage syndrome family with Duchenne muscular dystrophy.Methods Next-generation sequencing,first-generation sequencing,chromosome microarray analysis,and multiplex ligation probe amplification technology were used to test the family members.Results The genetic test results sug-gest that the proband's GLB1 gene had c.446C＞T(p.S149F)and c.1214C＞T(p.T405I)heterozygous mutations,two mutations respectively from his father(c.1214C＞T)and mother(c.446C＞T).The fetus had no GLB1 gene mutation,but has a deletion of the DMD gene in exon 49,origined from his mother.Conclusion The complex heterozygous mutations c.446C＞T and c.1214C＞T of GLB1 gene may be the pathogenic cause of the child.The combined application of multiple gene detection techniques can improve the detection rate of gene mutations and reduce the birth defects and provide a new approach to ge-netic counseling.
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