P245: Updating the spectrum of GALNS mutations suspected of causing Morquio A (MPS IVA) to estimate genetic prevalence and improve diagnosis

Genetics in Medicine Open 2026 Open access

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Authors: Sara L. Pulit, Alice Piller, Emanuela Izzo, Sherif Khattab, Robert Power, Rachel Moore, Melissa Spear, Melisa Chuong, Vincent Plagnol, Christian Beetz, Mandy Radefeldt
DOI: 10.1016/j.gimo.2026.103739
Cited by: 0

Abstract

Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by variants in the GALNS gene. Classical disease onsets between ages 2-4 years, and has a broad phenotypic spectrum including skeletal abnormalities, pulmonary complications, and corneal clouding. Non-classical disease may not onset until the teen years or adulthood.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103739–103739
Publication date
1 January 2026
Language
EN