Table 1.

Genetic variants and phenotype of patients with ARSK deficiency

	Subject 1 (family 1)	Subject 2 (family 1)	Subject 3 (family 2)	Subject 4 (family 2)
Variant in ARSK gene (NM_198150.2)	c.250C>T, p.(Arg84Cys), homozygous	c.250C>T, p.(Arg84Cys), homozygous	c.560T>A, p.(Leu187Ter), homozygous	c.560T>A, p.(Leu187Ter), homozygous
Ethnicity	Turkish	Turkish	Indian	Indian
Last examination (age in years, sex)	16 y, female	14 y, male	18 y, male	17 y, male
Previous suspected diagnoses	MPS, spondyloepiphysial dysplasia, Turner syndrome	MPS, spondyloepiphysial dysplasia	Brachyolmia, MPS, spondyloepiphysial dysplasia	Brachyolmia, MPS, spondyloepiphysial dysplasia
Height	146.5 cm, −3.25 SD	150 cm, −1.94 SD	157 cm, −3.22 SD	145.5 cm, −4.53 SD
Weight	68 kg	49 kg	n.a.	32.48 kg
Head circumference	59 cm, 2.52 SD	58.5 cm, 1.95 SD	53 cm, −2.21 SD	52.5 cm, −2.41 SD
Arm span	150.5 cm	155 cm	164 cm	147 cm
Length upper/lower body segment	71.5 cm / 75 cm	70 cm / 80 cm	73 cm / 84 cm	65.5 cm / 80 cm
Facial phenotype	Coarse facial features	Coarse facial features	Coarse facial features, long philtrum, broad nasal root	Coarse facial features, long philtrum, broad nasal root
Eyes	Mild myopia since 14th year of life, mild lens and vitreous opacity, mild retinal pigmentation temporal of the fovea	Mild lens and vitreous opacity, mild retinal pigmentation temporal of the fovea	Normal	Normal, no corneal opacity, normal fundus
Auditory system	Normal audiogram and tympanogram	Normal audiogram and tympanogram	Normal	Normal
Jaw and teeth	Open bite, wide spaced teeth, diastemata, canine-like appearance of lateral incisors	Open bite, wide spaced teeth, canine-like appearance of lateral incisors	Normal	Normal
Hands/wrist	Hands normal	Hands normal, intermittent paresthesia	Normal	Brachydactyly, arthropathy of right wrist
Skeletal features	Disproportionate short-trunk short stature, genu valgus, mild scoliosis	Disproportionate short-trunk short stature, mild genu valgus	Disproportionate short-trunk short stature, genu valgus	Disproportionate short-trunk short stature, genu valgus, mild scoliosis
Liver, spleen	Normal in size and structure (ultrasound examination)	Normal in size and structure (ultrasound examination)	Normal on clinical examination	Normal on clinical examination
Kidneys	Normal in size and structure (ultrasound examination)	Normal in size and structure (ultrasound examination)	n.a.	Operation for right renal calculus at 6 y
Heart	Systolic murmur, mild aortic valve stenosis and regurgitation, thickened ends of aortic cusps, mild left ventricular hypertrophy	Systolic and diastolic murmur, mild aortic valve stenosis and regurgitation, thickened ends of aortic cusps	Normal on clinical examination	Normal on clinical examination
Neurological examination, cognition	Normal	Normal	Normal	Normal

ARSK, arylsulfatase K; MPS, mucopolysaccharidosis; n.a., not available; y, years.