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), homozygousc.250C>T, p.(Arg84Cys), homozygousc.560T>A, p.(Leu187Ter), homozygousc.560T>A, p.(Leu187Ter), homozygous
EthnicityTurkishTurkishIndianIndian
Last examination (age in years, sex)16 y, female14 y, male18 y, male17 y, male
Previous suspected diagnosesMPS, spondyloepiphysial dysplasia, Turner syndromeMPS, spondyloepiphysial dysplasiaBrachyolmia, MPS, spondyloepiphysial dysplasiaBrachyolmia, MPS, spondyloepiphysial dysplasia
Height146.5 cm, −3.25 SD150 cm, −1.94 SD157 cm, −3.22 SD145.5 cm, −4.53 SD
Weight68 kg49 kgn.a.32.48 kg
Head circumference59 cm, 2.52 SD58.5 cm, 1.95 SD53 cm, −2.21 SD52.5 cm, −2.41 SD
Arm span150.5 cm155 cm164 cm147 cm
Length upper/lower body segment71.5 cm / 75 cm70 cm / 80 cm73 cm / 84 cm65.5 cm / 80 cm
Facial phenotypeCoarse facial featuresCoarse facial featuresCoarse facial features, long philtrum, broad nasal rootCoarse facial features, long philtrum, broad nasal root
EyesMild myopia since 14th year of life, mild lens and vitreous opacity, mild retinal pigmentation temporal of the foveaMild lens and vitreous opacity, mild retinal pigmentation temporal of the foveaNormalNormal, no corneal opacity, normal fundus
Auditory systemNormal audiogram and tympanogramNormal audiogram and tympanogramNormalNormal
Jaw and teethOpen bite, wide spaced teeth, diastemata, canine-like appearance of lateral incisorsOpen bite, wide spaced teeth, canine-like appearance of lateral incisorsNormalNormal
Hands/wristHands normalHands normal, intermittent paresthesiaNormalBrachydactyly, arthropathy of right wrist
Skeletal featuresDisproportionate short-trunk short stature, genu valgus, mild scoliosisDisproportionate short-trunk short stature, mild genu valgusDisproportionate short-trunk short stature, genu valgusDisproportionate short-trunk short stature, genu valgus, mild scoliosis
Liver, spleenNormal in size and structure (ultrasound examination)Normal in size and structure (ultrasound examination)Normal on clinical examinationNormal on clinical examination
KidneysNormal in size and structure (ultrasound examination)Normal in size and structure (ultrasound examination)n.a.Operation for right renal calculus at 6 y
HeartSystolic murmur, mild aortic valve stenosis and regurgitation, thickened ends of aortic cusps, mild left ventricular hypertrophySystolic and diastolic murmur, mild aortic valve stenosis and regurgitation, thickened ends of aortic cuspsNormal on clinical examinationNormal on clinical examination
Neurological examination, cognitionNormalNormalNormalNormal
  • ARSK, arylsulfatase K; MPS, mucopolysaccharidosis; n.a., not available; y, years.