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

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

Gene	Patient	Sex	Type of Mutation	Nucleotide	Protein	Zygosity	Segregation	Age of onset (years)	ACMG hazard level	Ref
GALNS	1^st	M	Missense	c.575A>G;	p.E192G	het	m		Likely pathogenic	ND
								6
			Terminator	c.1567T>G;	p.X523E	het	f		Pathogenic	[3]
GALNS	2^nd	M	Missense	c.488C>A;	p.P163H	hom	ND	3	Likely pathogenic	[4]

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

ISSN: 1471-2431