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Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III

Mucolipidosis II and III are autosomal recessive disorders due to mutations in the GNPTAB and GNPTG genes encoding the αβ‐ and γ‐subunits of the GlcNAc‐1‐phosphotransferase, respectively. This protein has a subunit structure of α2β2γ2 and initiates the first step of tagging lysosomal enzymes with mannose‐6‐phosphate (M6P). In the present study, we screened four MLII and three MLIII cell lines for mutations in GNPTAB and GNPTG. Nine novel mutations in GNPTAB and two previously reported mutations in GNPTAB and GNPTG were identified. By using anti‐peptide antibodies against the α‐ and β‐subunits, we show that mutations in the γ‐subunit affected the assembly and intracellular distribution of the α‐ and β‐subunits. Furthermore, the biochemical phenotypes of MLII and MLIII fibroblasts can be corrected by transfection with wild‐type cDNA expression constructs encoding the α/β‐ and γ‐subunits of GlcNAc‐1‐phosphotransferase, respectively. © 2009 Wiley‐Liss, Inc.