Analysis of a case of mucolipidosis in a child with dilated cardiomyopathy
Objective To identify the etiology of a child with special facial features,gingival hypertrophy,neck short-ening,severe neuromotor development impairment,multiple respiratory infections,and dilated cardiomyopathy.Methods DNA was extracted from peripheral blood of the children and their parents,and the pathogenic variation of related genes was analyzed by whole exome sequencing technology combined with clinical phenotype system,and the progenitor and his parents were veri-fied by Sanger sequencing.Results The results of whole exome sequencing showed that the GNPTAB gene(NM_024312.5)of the child had A complex heterozygous mutation of c.1284+1G＞A and c.79del(p.Val27Serfs*56),which were inherited from the mother and father,respectively.The mutation was suspected to be a pathogenic mutation.Conclusion The complex heterozy-gous variation of the GNPTAB gene(NM_024312.5)in c.1284+1G＞A and c.79del(p.Val27Serfs*56)may lead to mucolipido-sis Ⅱ α/β type with dilated cardiomyopathy,and this result provides a basis for genetic counseling in mucolipidosis Ⅱ patients.
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