Molecular order in mucolipidosis II and III nomenclature

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

“…In the remaining cases, parental DNAs were unavailable for analysis (most of the patient samples had been preserved in the Biobank). All patients exhibited a mild clinical phenotype, thereby providing support for earlier observations that mutations in the GNPTG gene are generally predictive of a milder MLIII phenotype and a better prognosis than GNPTAB gene mutations [Cathey et al, 2008].…”

“…The a and b subunits contain the catalytic site of the enzyme and are encoded by the GNPTAB gene on chromosome 12q23.2 (MIM] 607840) [Tiede et al, 2005]. Mutations in the GNPTAB gene are responsible for MLII and MLIII alpha/beta [Paik et al, 2005;Tiede et al, 2005;Kudo et al, 2006;Cathey et al, 2008]. The g subunit (MIM] 607838), which would appear to facilitate recognition of acid hydrolase substrates, is encoded by the 11-exon GNPTG gene located on chromosome 16p13.3 [Raas-Rothschild et al, 2000, 2004Lee et al, 2007;Braulke et al, 2008].…”

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

“…2 In 2000, Raas-Rothschild et al 3 reported that the g subunit is encoded by the GNPTG gene and contributes to the pathology of ML III gamma, formerly described as ML IIIC. 4 Recent cloning of cDNAs for a/b subunits showed that it is encoded by a single gene GNPTAB. 5 GNPTAB is located at chromosome 12q23.3, contains 21 exons and codes 1256 amino acids.…”

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

“…Mutations in the γ-subunit, encoded by the GNPTG gene (MIM# 607838; chromosome 16p13.3), have been reported to be associated with MLIIIC [Raas-Rothschild et al, 2000Tiede et al, 2004]. A more precise knowledge of the molecular basis of the mucolipidoses has led to the adoption of new descriptive terms: MLIIα/β, MLIIIα/β and MLIIIγ, formerly termed MLII (I-cell disease), MLIIIA and MLIIIC, respectively [Cathey et al, 2008].…”