GM1 gangliosidosis and Morquio B disease: Expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

Identification and characterization of six new mutations in GLB1 gene in Ukrainian patients with GM1 gangliosidosis and Morquio B disease

“…The bound inheritance of mutations c.1203_1205delTTA and p.Pro403Tre was identified in one patient in the homozygous state and conditioned the development of the infantile form of GM1-gangliosidosis. However, the mutation of the splicing site IVS12+8T > C, found by us, was identified in the patient with Morquio B disease in the heterozygous state in combination with the missence mutation p.Trp273Leu, common for this phenotype [13].…”

“…A new mutation IVS12+8T>C and a known mutation p.Trp273Leu, which, according to the scientific literature, is remarkable for this syndrome and must have had the main impact on the formation of the patient's phenotype [13], were found in one patient, whose diagnosis was determined to be Morquio B using the combination of clinical signs and the results of biochemical tests. The mutation p.Trp273Leu has been never observed in the group of patients with GM1-gangliosidosis, examined by us, which testifies to its specific association with Morquio B disease and allows using the results of the molecular analysis for the purpose of differential diagnostics of GM1-gangliosidosis and Morquio B disease.…”

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype

“…Her mild skeletal abnormalities and keratan sulfaturia support the diagnosis of MBD, while her mild cognitive delay and GM1-specific oligosacchariduria support type II or III GM1. Whereas some mutations in GLB1 can be predictive of the disease, the R201H mutation identified in this patient has been described in both GM1 type II/III and in MBD (Ishii et al 1995;Kaye et al 1997;Morrone et al 2000;Paschke et al 2001;Caciotti et al 2005Caciotti et al , 2011Santamaria et al 2006;Hofer et al 2009). Interestingly, a patient homozygous for R201H was classified as MBD while other reports on heterozygous patients described more severe GM1 phenotypes (Santamaria et al 2006;Morrone et al 2000;Santamaria et al 2007).…”

Structural Basis of Pharmacological Chaperoning for Human β-Galactosidase

“…Morquio B disease is a rare bone disease without central nervous system involvement (7). Currently, more than 160 mutations in the human ␤-Gal gene have been identified as factors causative of its deficiency (8,9).…”