Work

Novel missense Mutation in the Human GALNS gene (c.965C>T), Results in Severe Mucopolysaccharidosis Type IVA

Year: 2025

Type: article

Abstract: 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-6-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 (1). Moreover, respiratory compromise, as well as cardiac, ocular, dental, hearing, and neurologic impairments, are consequences of disease progression (2, 3).

Source: Iranian journal of pathology

DOI: 10.30699/ijp.2024.2025376.3278

Authors: Moeinadin Safavi, Aria Setoodeh, Mahdiieh Ghoddoosi

Institutions: Children's Medical Center, Tehran University of Medical Sciences, Qom University of Medical Science and Health Services

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $182