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Table 1 Clinical characteristics and results of the analysis of GALNS gene mutation in the two patients

From: Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review

Gene Patient Sex Type of Mutation Nucleotide Protein Zygosity Segregation Age of onset (years) ACMG hazard level Ref
GALNS 1st M Missense c.575A>G; p.E192G het m   Likely
pathogenic
ND
         6   
    Terminator c.1567T>G; p.X523E het f   Pathogenic [3]
GALNS 2nd M Missense c.488C>A; p.P163H hom ND 3 Likely
pathogenic
[4]
  1. ACMG According to the American College of Medical Genetics and Genomics guidelines, Ref Reference, het Heterozygous, hom Homozygous, M Male, m Mother, f Father, ND No data or not done