. 2016 Jun 17;11:51. doi: 10.1186/s13000-016-0498-y

Table 1.

Molecular and clinical findings of the fifteen MPS IVA patients

	Cases
	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15
Sex	Male	Female	Male	Female	Female	Female	Female	Male	Female	Male	Female	Male	Female	Female	Male
Age at diagnosis (year/month)	4/5	3	8	3	5/4	7/7	3	4/4	5	3	8	5/4	5	4	6/8
Age of onset (year/month)	18 months	14 months	2	16 months	2/3	18 months	14 months	16 months	18 months	2	14 months	16 months	14 months	18 months	18 months
Consanguinity of the parents/degree	1st cousins	1st cousins	2nd cousins	3rd degree	2nd cousins	1st cousins	1st cousins	1st cousins	1st cousins	1st cousins	1st cousins	1st cousins	1st cousins	1st cousins	1st cousins
Symptoms	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked
Growth retardation	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked
Short trunk	+	+	+	+	+	+			+			+			+
Short neck	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Genu valgum	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked	Marked
Corneal opacities	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Hepatomegaly	+	-	-	+	+	-	-	+	+	+	-	-	-	-	+
GALNS activity nmol/h/mg leukocyte protein	0.006	0.08	0.01	0.007	0.008	0.02	0.05	0.006	0.06	0.03	0.05	0.04	0.01	0.009	0.03
Mutations	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.287G > C; p.G66R	c.341C > T; p.A85T	c.1156C > T; p.R386C	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.120 + 1G > A; IVS1 + 1G > A	c.863A > G; p.D288G
Haplotypes	ABcdeH	ABcdeH	ABcdeH	ABcdeH	ABcdeH	AbcDeh	AbCdEH	aBcDEH	ABcdeH	ABcdeH	ABcdeH	ABcdeH	ABcdeH	ABcdeH	aBcDEH