Tuberous sclerosis complex(TSC)is a neurocutaneous syndrome with autosomal dominant inheritance and characterized by the involvement of multiple organ systems.TSC1 and TSC2 are the two main pathogenic genes,and mutations in either of the two gene can lead to changes in protein structure and function,ultimately resulting in various clinical phenotypes of TSC.To date,several TSC-associated TSC2 and TSC1 mutations have been identified.However,during the clinical consultation,we admitted a child with an unreported TSC2 gene c.4569+1G>T heterozygous mutation associated with seizures with depigmentation in TSC,which is reported here to provide clues for the clinical diagnosis and research of TSC-related diseases.
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