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Table 1 Clinical biochemical and molecular features of MPSIVA patients

From: Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Patient 1 2 3
Phenotype severe mild severe
Age 14 y 6 m 16y 14y
Age at diagnosis 3y 5 m 8y 3y
Age at onset 3 m 3y 2-3y
GALNS activity (nmol/17 h/mg protein) 0.07 (nv 40–170) 0.2 (nv 40–170) 0 (nv 70–180)
Genotype c.463G > A (ex 5)/ c.899-167A > G c.463 G > A (ex 5)/ c.1002 + 307G > C^ c.697G > A (ex 7)/ c.759-67G > A^
mRNA alteration −/ r.898_899ins53 −/ r.1003_1119del −/ r.456_916del
Protein alteration p.Gly155Arg / p.Gly300Valfs*37 p.Gly155Arg/ p.(Val335_Leu373del) p.Asp233Asn/ p.(Lys153_Phe306del)
Sex female female male
Parental consanguinity no no no
Height (cm) at diagnosis 89.5 121
Height (cm) at last observation 108.6 136.3 114.5
Weight (kg) 18.2 26.6 27.5
Spondyloepiphyseal dysplasia yes yes yes
Chest deformity yes yes yes
Hearing loss no yes
Corneal clouding no mild no
Coxa valga yes yes yes
Odontoid hypoplasia yes yes no
Hepatomegaly no yes mild
Cardiomyopathy yes no no
Valvular regurgitation no mitral/ tricuspid
Mental retardation no no WISC-III TIQ 89
Surgery (type and age) odontoid hypoplasia (7y), coxa valga (13y), cardiomyopathy (9 m) right hip (6y), left hip (7y), coxa valga (10y) coxa valga (10y)
Urine GAGs (mg/g creatinine) 92 (nv 48–82) 52 (nv 10–63) 6.6 (nv 2.1–23.2)