Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.

摘要

Mucolipidosis III gamma is an autosomal recessive disorder with defective phosphorylation and trafficking of lysosomal enzymes. In a Chinese family with three siblings, linkage analysis revealed positive linkage of the family to GNPTG. Direct DNA sequence analysis identified two novel compound heterozygous mutations, c.471delC in exon 7 and IVS4-1G>C, in three patients. The two mutations cause frameshift and abnormal splicing, respectively, and represent the first series of GNPTG mutations in the Chinese population.