This article reports one case of mucolipidosis with whole-heart enlargement and severe cardiac dys-function.The clinical manifestations,symptoms and signs of this patient were consistent with the characteristics of lysosomal storage disease.Based on the suspected diagnosis of lysosomal disease,we extracted peripheral blood from the patient and his parents for genetic pathogenic gene analysis and family lineage investigation by whole-ex-ome sequencing.Genetic testing results showed that there are three heterozygous mutations in GNPTAB gene of the patient:c.2715+1G＞A(splice),c.1090C＞T(p.Arg364Ter),c.1209T＞C(p.Ile403Ile),all of which are derived from his parents,consistent with autosomal recessive inheritance.The variation could explain the clin-ical phenotype of the client,but the phenotype of cardiac enlargement is rare and the mechanism of its formation is unknown.The aim of this study is to improve the cognition of ML Ⅲα/β type by analyzing the clinical presenta-tion of one patient.
NETL
NSTL
万方数据
