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.

Abstract

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.

• Authors: Zoran S Gucev, Velibor Tasic, Aleksandra Jancevska, Georgi Zafirovski, Ivo Kremensky, Ivanka Sinigerska, Eiji Nanba, Katsumi Higaki, Filip Gucev, Yoshiyuki Suzuki
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 13 Pg. 1736-40 (Jul 01 2008) ISSN: 1552-4833 [Electronic] United States
• PMID: 18546276 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2008 Wiley-Liss, Inc.

Chemical References

• Hexosamines
• N-octyl-beta-valienamine
• beta-Galactosidase

Topics

• Adult
• Amino Acid Substitution
• Female
• Fibroblasts (drug effects, enzymology)
• Hexosamines (pharmacology)
• Humans
• In Vitro Techniques
• Mucopolysaccharidosis IV (enzymology, genetics, pathology)
• Phenotype
• Point Mutation
• Skin (drug effects, enzymology)
• beta-Galactosidase (deficiency, genetics)