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Table 1 Clinical and anthropometric details of MPS IVA patients in the present study

From: The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

Patient ID Age (in years) Sex Religion (Region) Consanguinity Phenotype Additional features GALNS enzyme activity (nmol/hr/mg protein) [NR: 14–32 nmol/hr/mg protein]
Short stature Pectus carinatum Kyphosis Scoliosis Genu valgum Platyspondyly Anterior beaking of bone
P1 3 Female Hindu (Gujarat) No - - - - - Short fingers, strabismus, hepatomegaly 6.0
P2 1.9 Male Hindu (Gujarat) No - - - - Lumbar lordosis, upper femoral epiphysis, pleural effusion 3.7
P3 0.9 Female Muslim (Gujarat) Yes - - - - - Gibbus 0.75
P4 1.5 Male Muslim (Gujarat) Yes - - - - - - Pointed appearance of bones of metacarpals of both hands, bilateral deformity of lower ends of radius and ulna, distal ends of proximal phalanges of fingers are pointed 11.1
P5 8 Female Hindu (Gujarat) No - - - Skeletal deformity, extended neck, delayed motor development, frontal bossing, corneal clouding, short neck and trunk, widening of wrist and elbow, mild hypotonia, distal ends of proximal phalanges of fingers are pointed, shortening of metacarpal bones 4.8
P6 1 Female Hindu (Gujarat) No - - - Large skull, frontal bossing, wide ribs, bullet shaped phalanges, wide ribs 4.15
P7 2 Male Hindu (Gujarat) No - - - - - Hydrocephalus 4.3
P8 6 Male Darbar (Gujarat) Yes - - - Rickets 5.6
P9 2 Male Hindu (Gujarat) No - - - - - Bullet-shaped metacarpals, bilateral hip dysplasia 7.7
P10 1 Male Hindu (Gujarat) No - - - - - Abnormal bilateral capital femoral epiphysis 3.0
P11 6 Male Hindu (Gujarat) No - - - - - - Short neck and short fingers 1.1
P12 1.7 Female Hindu (Gujarat) No - - - - - - - Coarse face, skeletal abnormality, gait disturbance 0.2
P13 2.5 Male Hindu (Gujarat) No - - - - Bullet-shaped phalanges, shortening of metacarpal bones, subluxation of distal radio-ulna joint, distorted/ sclerotic shallow acetabulum 0.05
P14 3.7 Female Hindu (Gujarat) No - - - - Acetabulum dysplasia, epiphyseal dysplasia, prominent metaphysis mainly at knee and wrist, ulnar deviation at wrist, short palm and fingers, bullet shaped metacarpals 0.37
P15 4 Female Hindu (Gujarat) No - - - - - Large skull, short and wide metacarpals with pointed base, Madelung deformity in wrist, wide gait, shoulder contractures 0.08
P16 12 Female Hindu (Gujarat) No - - - - Bilateral lower and upper limb weakness, deformity of upper limbs, unable to walk, spinal canal narrowing, deep acetabulum, corneal opacity 3.4
P17 21 Male Hindu (Gujarat) No - - - - - - - Skeletal dysplasia 0.03
P18 5 Male Javia (Gujarat) No - - - - - Ankle deformity, bilateral Plano valgus feet, spondylo epiphyseal dysplasia 0.25
P19 3.5 Male Muslim (Gujarat) Yes - - - - - - Dysostosis multiplex, Coarse face 0.04
P20 4 Female Muslim (Gujarat) Yes - - - - - Lumbar lordosis, wrist widening, bilateral flattened sclerotic femoral head 0.8
P21 1.6 Male Hindu (Gujarat) No - - - - Short metacarpals with pointed proximal ends, mild narrowing of foramen magnum with cord compression and focal significant cord oedema at C1-C2 level 0.02
P22 6 Female Muslim (Gujarat) Yes - - - - - Coarse face, increased wrist angle 0.025
P23 2 Female Muslim (Gujarat) Yes - - - - - - - Skeletal dysplasia 0.33
  1. NR Normal range