Clinical phenotypes and genetic features of families with Duchenne muscular dystrophy / 中国当代儿科杂志

ABSTRACT

OBJECTIVE@#To study the phenotypes and genetic features of families with Duchenne muscular dystrophy (DMD).@*METHODS@#Seven children from six families with DMD diagnosed by gene testing were enrolled. The clinical and genetic features of the families were analyzed.@*RESULTS@#There were two new mutations and four maternal inheritance mutations in the six families. The proband of family 1 had one point de novo mutation and one insertion de novo mutation of the DMD gene. Three families had point mutation, one family had fragment deletion of exon, and one family had fragment duplication of exon. The youngest age of onset of the probands was 6 months. All probands had skeletal muscle dyskinesia and significant changes in muscle enzymes, with different severities of clinical phenotypes. Three probands had mild mental retardation. The results of echocardiography were normal for all probands. The mother of the proband in family 6 had mild clinical phenotype.@*CONCLUSIONS@#Gene testing can be used for the confirmed diagnosis of DMD. Mental retardation is a frequent clinical phenotype of DMD. The symptoms of myocardial involvement are not obvious in the early stage. Female carriers may have mild clinical symptoms.