Clinical information for DYNC2H1 JATD patients
| Family | Patient | Origin | Sex | Age range of patient | Related parents | Hands | Feet | Rib cage | Limbs | Short stature/height percentile | Skeleton anomaly | Liver, kidney, eye features | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| JATD-1 (Case 4*) | II-2 | Dutch | M | 20s | No | No polydactyly, metacarpals and phalanges radiologically normal | No polydactyly | Narrow, short, broad ribs, thorax; surgically corrected | Mild shortening radius/ulna in infancy | P50 | Trident appearance of acetabular margins; handlebar clavicles | Thoracic scoliosis (convex to right); no renal or retinal involvement | Chest pain during and after exercise and stress; hypovascular pancreas lesion |
| JATD-2 (Case 5*) | II-1 | Dutch | M | 20s | No | Short distal carpals and distal phalanges in infancy; brachydactyly | No polydactyly, | Narrow, short, horizontal ribs | Short limbs in infancy | P25–50 | Short iliac bones with spur-like protrusions; handlebar clavicles | Thoracolumbal scoliosis (convex to left); no renal or retinal involvement | Syndactyly of digits 2 and 3 (both feet); hallux valgus (right), short breath during sport |
| JATD-3 (Case 6, 7*) | II-4 | Dutch | M | Late teens | Yes | Possible brachydactyly (not pronounced); no polydactyly | No polydactyly | Small, bell-shaped thorax with short, broad ribs and short sternum | Shortened limbs in infancy | At the age of 12 years height below the third centile | Abnormal pelvic configuration with acetabular spiky protrusions; elevated clavicles | No renal or retinal abnormalities | Respiratory distress after birth, which improved after hours |
| II-5 | Dutch | M | Died 2nd month (respiratory insufficiency) | No polydactyly | No polydactyly | Narrow thorax, short ribs | Short limbs | NA | Trident appearance of acetabular margins; elevated clavicles | Signs of mild retinitis pigmentosa, bile duct proliferation and portal tract fibrosis, renal mesangial glomerular sclerosis | Severe respiratory distress at birth; lung hypoplasia with interstitial fibrosis; cardiac septum defect; cerebral ventriculomegaly | ||
| JATD-4 UCL47 | UCL47.1 | Dutch | F | 30s | No | Brachydactyly; no polydactyly | Brachydactyly; no polydactyly | Narrow | Mild shortening | P50–75 | Acetabular spurs, small ilia | Mildly disturbed liver enzymes; normal vision, normal renal ultrasound | |
| JATD-5 UCL61 | UCL61.1 | Dutch | M | Fetus | No | No polydactyly | No polydactyly | Extremely narrow | Short arms and short bowed femur | NA (fetus) | Acetabular spurs | Large kidneys on ultrasound in utero | |
| JATD-6 | II-1 | Dutch | M | Under 10 | No | No polydactyly | No polydactyly | Narrow | Mild shortening | P10–25. (height 109 cm at 5 years 6 months) | Small ilea with acetabular spurs; brachydactyly, mild rhizomelic shortening (neonatally) | No renal or retinal involvement | Hernia inguinalis; exorotation of legs; chest and leg pain induced by exercise |
| JATD-7 UCL19 | UCL19.1 | Belgian | NA | Fetus | No | No polydactyly. Short and broad hands, short fingers; fixed extension of the first interphalangeal joints | No polydactyly | Very narrow, tubular | Short long bones with irregular metaphysis and bony spikes at the ends | NA | Normal vertebrae. Short ilia with typical medial bony projection | Perimembranous VSD | |
| JATD-8 UCL 63 | UCL63.1 | German | F | Under 10 | No | No polydactyly | No polydactyly | Narrow thorax, short horizontal ribs | Very mild shortening | P50–75 | Small ilia, acetabular spurs | No renal disease, liver disease or retinopathy | |
| JATD-9 | II-1 | Polish | F | Under 5 | Yes | No polydactyly, mildly rhizomelic shortening of upper limbs and large hands | No polydactyly | Very narrow, pectus carinatus | P90 | Anterior of ribs ossified with wide rounded margins, phalanges have cone-shaped epiphysis, short shafts of phalanges and metacarpal bones. ∼2 years advanced bone age | Normal abdominal ultrasound, no signs of retinal disease | Mild respiratory problems after birth high forehead, widely spaced teeth | |
| JATD-10 UCL15 | UCL15.1 | UK Ashkenasi | NA | Fetus | No | No polydactyly | No polydactyly | Narrow | Short femur | NA (fetus) | Small ilia, typical acetabular spurs | ||
| UCL15.2 | NA | Fetus | NA (fetus) | ||||||||||
| UCL15.3 | NA | Fetus | NA (fetus) | ||||||||||
| JATD-11 UCL90 | UCL90.1 | UK | F | Under 5 | No | No polydactyly | No polydactyly | Narrow, asymmetric shape | Mildly shortened upper and lower extremities in early childhood | Slightly short stature | Pelvis radiologically compatible with JATD | No retinal, renal or liver disease | Delayed motor milestones (walking with 2.5 years of age), valgus deformity of the feet |
| JATD-12 UCL48 | UCL48.1 | UK | F | Died as neonate | No | No polydactyly | No polydactyly | Narrow, severe shortening of ribs with bulbous anterior ends | Mild shortening long bones, slight bowing of femurs. Mildly shortened tubular bones of hands | Limbs <5th centile at 20/40, chest size queried | Horizontal acetabular roof with medial and lateral spurs, narrow sciatic notches and short iliac wings—trident pelvis | Long superiorly placed clavicles. No renal, retinal or liver disease | Severe respiratory distress at birth, died within hours of birth |
| UCL48.2 | M | Fetus | NA (fetus) | ||||||||||
| UCL48.3 | F | Fetus | NA (fetus) | ||||||||||
| JATD-13 UCL39 | UCL39.1 | Caucasian USA | M | Under 10 (loss of follow-up) | Yes | NA | NA | Narrow | NA (not documented) | NA | NA | ||
| JATD-14 UCL80 | UCL80.1 | Turkish | M | Died in 1st year (respiratory failure) | Yes | No polydactyly, cone-shaped epiphyses | No polydactyly | Severely narrowed | Short long bones | <P3 in infancy | Trident acetabulum, acetabular spurs, small ilia | Severe respiratory distress | |
| UCL80.2 | F | Died at 1.5 years (pneumonia) | No polydactyly | No polydactyly | Mild narrowing | Short long bones | <P3 in infancy | Frequent chest infections; no renal or retinal involvement | Albinism | ||||
| JATD-15 UCL58 | UCL58.1 | Turkish | M | Died at 1.5 years (respiratory failure) | Yes | No polydactyly | No polydactyly | Tubular bell-shaped thorax | Mildly shortened extremities | P3 at 1.5 years | Dysplastic acetabulum | Normal kidney function (unilateral renal pelvic ectasia seems unrelated to JATD), no liver disease, no retinopathy | Valgus deformity of the feet, mild frontal bossing, left sided testis hydrocele, patent ductus arteriosus |
| JATD-16 UCL81 | UCL81.1 | Turkish | M | Mid-teens | Yes | Unilateral postaxial polydactyly | No polydactyly | Narrow | Mild shortening | P97 at 9 years | Trident acetabulum, acetabular spurs; handlebar clavicles | Elevated liver enzymes since age 7 years; no renal or retinal involvement | Unilateral atresia of external ear meatus and ear anomaly |
| JATD-17 UCL95 | UCL95.1 | Turkish | F | Under 5 | No | No polydactyly | No polydactyly | Narrow | Short limbs in early childhood | P3–10 at 3 years | Pelvis and thorax radiologically compatible with JATD | Normal renal function and ultrasound, no retinitis pigmentosa, normal liver function | Short neck, elevated claviculae |
| UCL95.2 | M | Died at first day of life (respiratory failure) | Narrow | Short limbs | NA | No signs of renal, retinal or liver disease | |||||||
| UCL95.3 | F | Fetus | Short ribs | Short extremities | NA | NA | |||||||
| JATD-18 UCL62 | UCL62.1 | Turkish–Kurdish | M | Under 5 | No | No polydactyly | No polydactyly | Severely narrow | Pelvis and thorax radiologically compatible with JATD | No renal or retinal disease | Oesophageal atresia | ||
| UCL62.2 | Under 5 | No polydactyly, broad hands, short fingers | No polydactyly | Milder narrowing | Broad hands and toes, slightly short fingers | NA | |||||||
| JATD-19 UCL109 | UCL109.1 | UK Yemen–Somali | M | Under 5 | No | No polydactyly | No polydactyly | Severely narrowed | Height NA, not obviously below average | Pelvis and thorax radiologically compatible with JATD | No renal or retinal involvement | Severe respiratory distress, tracheostoma, currently on home ventilation at night | |
| UCL109.2 | M | Under 5 | Narrow | No renal or retinal involvement | Very mild respiratory symptoms |
*Patient previously described.55 Ages approximated to protect patient privacy. Clinical details relate to information taken at ascertainment or at most recent review, indicated in ‘age range’ column. Retinal disease was excluded in most patients with fundoscopy.
JATD, Jeune asphyxiating thoracic dystrophy; IFTB, intraflagellar transport complex B; NA, not available; UCL, University College London; VSD, ventricular septum defect.