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Article

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.

Journal of inherited metabolic disease - 1 May 2022

Yi Mengni, Wang Yu, Gao Xiaolan, Han Lianshu, Qiu Wenjuan, Gu Xuefan, Maegawa Gustavo H B, Zhang Huiwen

Abstract excerpt

Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder resulting from the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) caused by pathogenic variants in the GALNS gene. A systematic analysis for genotype-phenotype correlation is essential due to hundreds of variants generating different levels of residual GALNS activity and causing a wide degree of clinical manifestation...

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PMID: 35212421
DOI: 10.1002/jimd.12491

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