Novel missense Mutation in the Human GALNS gene (c.۹۶۵C>T), Results in Severe Mucopolysaccharidosis Type IVA

Dear Editor,Mucopolysaccharidosis IVA (Morquio syndrome) is a cause of morbidity in early or late childhood, depending on disease severity. It is an autosomal recessive disorder characterized by short stature and multiple skeletal abnormalities. A deficiency of N-acetylgalactosamine-۶-sulfate sulfatase (GALNS) activity, due to mutations in the GALNS gene, leads to the accumulation of keratan sulfate, which destroys cartilage tissue before epiphyseal closure (۱). Moreover, respiratory compromise, as well as cardiac, ocular, dental, hearing, and neurologic impairments, are consequences of disease progression (۲, ۳).

کلیدواژه ها:

Morquio A syndrome ، Metabolic disordes ، Lysosomal enzymes