Table 1 Phenotype summary
| Â | Case reported here (DM165-0001) | Family V-1 (Perrault et al. 2012) [24] | Family V-2 (Perrault et al. 2012) [24] | Family VII-1 (Perrault et al. 2012) [24] |
|---|---|---|---|---|
Sex | M | M | F | M |
Age at examination | 5Â years | 4Â years; 10Â years | 2Â years; 4Â years | Birth; 8Â months; 12Â months; 18Â months |
IFT140 allele 1 | c.634G>A (p.Gly212Arg) | c.634G>A (p.Gly212Arg) | c.634G>A (p.Gly212Arg) | c. 2399+1G>T (splice) |
IFT140 allele 2 | c.634G>A (p.Gly212Arg) | c.3916dup (p.Ala1306Glyfs*56) | c.3916dup (p.Ala1306Glyfs*56) | c. 634G>A (p.Gly212Arg) |
Diagnosis | Mainzer-Saldino syndrome | Mainzer-Saldino syndrome | Mainzer-Saldino syndrome | Jeune syndrome |
(MIM 266920) | (MIM 266920) | (MIM 266920) | (MIM 208500) | |
Psychomotor development | Dysgraphia | Normal | Normal | Hypotonia |
(HP:0010526), | (HP:0001290), | |||
Reading difficulties | Poor feeding at birth | |||
(HP:0010522), | (HP:0008872), | |||
Adjustment disorder with mixed | Developmental delay | |||
disturbance of emotions and conduct | (HP:0001263) | |||
(HP:0100851) | ||||
Cerebral MRI | NA | Normal | Normal | Normal |
Retina | ||||
 Nystagmus | No | No | No | Yes |
(HP:0000639) | ||||
 Refraction | High myopia | Myopia | NA | NA |
(HP:0011003) | (HP:0000545) | |||
 Light behavior | Nyctalopia | NA | NA | NA |
(HP:0000662) | ||||
 Visual field | NA | Tubular | NA | NA |
(HP:0030588) | ||||
 Visual acuity | Mild difficulty with visual tracking | 60/200 RE; 120/200 LE with color vision | 120/200 RE;100/200 LE | Able to fix and follow |
(HP:0030532) | ||||
 Fundus | Retinitis pigmentosa | Retinitis pigmentosa | Retinitis pigmentosa | NA |
(HP:0000510) | (HP:0000510) | (HP:0000510) | ||
 ERG | Rod-cone dystrophy | Severely altered | Severely altered | NA |
Craniofacial features | No obvious facial dysmorphisms | Craniosynostosis | Craniosynostosis | Normal |
(HP:0001363), | (HP:0001363), | |||
Scaphocephaly | Scaphocephaly | |||
(HP:0030799), | (HP:0030799), | |||
Facial dysmorphism | Facial dysmorphism | |||
(HP:0001999) | (HP:0001999), | |||
Microcephaly | ||||
(HP:0000252) | ||||
Stature | 120.2Â cm (50th centile) at 6Â years and 11Â months | Short | Short | Normal |
(HP:0004322) | (HP:0004322) | |||
Limbs | ||||
 Hands | Cone-shaped epiphyses of phalanges | Cone-shaped epiphyses of phalanges | Cone-shaped epiphyses of phalanges | Cone-shaped epiphyses of phalanges |
(HP:0010230), | (HP:0010230), | (HP:0010230) | (HP:0010230) | |
Brachydactyly | ||||
(HP:0011927), | ||||
Normal bone age | ||||
 Feet | Shortened metacarpals | NA | NA | NA |
(HP:0010049), | ||||
Shortened proximal phalanges | ||||
(HP:0001831), | ||||
Shortened metatarsals | ||||
(HP:0010743), | ||||
Irregular proximal metatarsal metaphyses | ||||
(HP:0010630), | ||||
Brachydactyly | ||||
(HP:0001831) | ||||
 Long bones | Abnormal proximal femoral metaphyses | NA | NA | Trident acetabulum |
(HP:0003170) | ||||
(HP:0003411), | ||||
Sclerotic changes of the of proximal femoral growth plate | ||||
(HP:0008797), | ||||
Broad femoral necks | ||||
(HP:0006429), | ||||
Mild bowing of the femoral diaphysis | ||||
(HP:0002980) | ||||
Other skeletal | Small left joint effusion of the hip | NA | NA | Short thorax |
(HP:0001384), | (HP:0010306), | |||
Bilateral coxa vara | Short ribs | |||
(HP:0002812) | (HP:0000773) | |||
Renal features | ||||
 Function | Acute-onset renal failure (5 years) | Chronic renal failure (4 years) | Chronic renal failure (9 months) | Elevated urea |
(HP:0001919); | (HP:0000083), | (HP:0000083); | (HP:0000093 | |
End-stage renal disease (15Â years) | End-stage renal disease (3Â years) | Proteinuria (18Â months) | ||
(HP:0003774) | (HP:0003774) | (HP:0000093) | ||
 Ultrasonography | Pre-transplant renal ultrasound: | Cysts, Small kidneys (-1DS) | 1 cyst (cortico-medullar, right | Increased echogenicity |
No evidence of hydronephrosis, Renal cortical medullary parenchymal disease | (HP:0000107) | kidney) | (HP:0004719) | |
Hyperechogenicity | (HP:0000107) | |||
(HP:0004719), | Hyperechogenicity | |||
(HP:0025327) | Cortico-medullary differentiation loss | (HP:0004719), | ||
Cortico-medullary differentiation | ||||
Pre-transplant abdominal ultrasound: Echogenic kidneys bilaterally | (HP:0005565) | loss | Â | |
Growth retardation (-2DS) | (HP:0005565) | |||
(HP:0004719) | (HP:0000089) | Growth retardation | ||
Post-transplant renal ultrasound: Normal transplanted kidney, normal bladder, atrophic appearance of native kidney | (HP:0000089) | |||
 Biopsy | Diffuse severe tubulointerstitial fibrosis |  |  | Non-specific tubulointerstitial nephritis |
(HP:0001970) | ||||
(HP:0005576) | ||||
Tubular atrophy | ||||
(HP:0000092 | ||||
Only focal non-atrophic tubules | ||||
Liver | Pre-transplant abdominal ultrasound: Hepatomegaly | Moderate cholestasis | Moderate cholestasis | NA |
(HP:0001396) | (HP:0001396) | |||
(HP:0002240) | Hepatic cytolisis with hepatomegaly | |||
Possible fatty infiltration | ||||
(HP:0001397) | (HP:0002240), | |||
Portal fibrosis | ||||
(HP:0006580) | ||||
Other | Pulmonary edema | Bilateral hypoacousia | Â | Â |
(HP:0100598), | (HP:0000407) | |||
Severe hypertension | ||||
(HP:0000822), | ||||
Fluid overload | ||||
(HP:0011105); | ||||
Mild sclerosis of arterioles | ||||
(HP:0002634) | ||||