reported in another unrelated family too [6]. Whether are these two mutations hotspots that needs to be further validated.To date, more than 90 different mutations have been reported. Clinical manifestations observed in the patients of all study, showed no obvious phenotypic variations and no evident genotype-phenotype correlations between affected individuals. We hope more findings of novel mutations would helpful for revealing the mechanism leading to DSH and further clarifying the relation between genotype and phenotype.In conclusion, our results provide a significant addition to the DSH mutation database and will contribute further to the understanding of DSH genotype/phenotype correlations and to the pathogenesis of this disease.

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