Article
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Molecular genetics and metabolism - 1 Jun 2014
Morrone A, Tylee K L, Al-Sayed M, Brusius-Facchin A C, Caciotti A, Church H J, Coll M J, Davidson K, Fietz M J, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang R Y, Miller N
Abstract excerpt
Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and...
Topics
- Cells, Cultured
- Child
- Child, Preschool
- Chondroitinsulfatases
- Female
- Genetic Association Studies
- Genetic Testing
- Genotype
- Glycosaminoglycans
- Humans