Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.
The patient is a 24-year-old woman who first came for consultation at age 10 years. Based on clinical phenotype and thin-layer chromatography of urinary oligosaccharides, peripheral leukocytes were sent for beta-galactosidase assay. This testing showed a deficiency in enzyme activity, and gene mutation analysis identified a previously reported mutation p.H281Y (875C > T) and a novel mutation p.W273R (817T > C). Unlike previously reported patients, mutant enzymes in this patient's cultured skin fibroblasts did not respond to treatment with a chaperone compound, N-octyl-4-epi-beta-valienamine.
Gucev
Zoran S
ZS
Medical Genetics Service, HCPA, Porto Alegre, Brazil. gucevz@gmail.com
Tasic
Velibor
V
Jancevska
Aleksandra
A
Zafirovski
Georgi
G
Kremensky
Ivo
I
Sinigerska
Ivanka
I
Nanba
Eiji
E
Higaki
Katsumi
K
Gucev
Filip
F
Suzuki
Yoshiyuki
Y
D000328:Adult; D019943:Amino Acid Substitution; D005260:Female; D005347:Fibroblasts / Q000187:drug effects / Q000201:enzymology; D006595:Hexosamines / Q000494:pharmacology; D006801:Humans; D066298:In Vitro Techniques; D009085:Mucopolysaccharidosis IV / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation; D012867:Skin / Q000187:drug effects / Q000201:enzymology; D001616:beta-Galactosidase / Q000172:deficiency* / Q000235:genetics*
D006595:Hexosamines; C116532:N-octyl-beta-valienamine; D001616:beta-Galactosidase