Table 2.
A comparison of phenotypes reported in the literature involving deletions around the Alport locus (Xq22.3) and extending towards the telomere
| Feature | Jonsson et al1 proband (1) | Jonsson et al1 proband (2) | Robson et al28 proband (1) | Robson et al28 proband (2) | Rodriquez et al22 proband (1) | Rodriquez et al22 proband (2) | Gazou et al26 proband (1) | Hoischen proband (1) | This study II(1) | This study II(2) |
|---|---|---|---|---|---|---|---|---|---|---|
| Sex | Male | Male | Male | Male | Male | Male | Male | Female | Male | Male |
| Region involved | COL4A6 to TDGF3 | COL4A6 to TDGF3 | COL4A5 to ACSL4 | COL4A5 to ACSL4 | COL4A5 to ACSL4 | COL4A5 to ACSL4 | GUCY2F to RGAG1 | COL4A6 to DCX | AMMECR1 | AMMECR1 |
| Short stature | 5th centile | 5th centile | − | − | 5th centile | − | − | N/A | 0.4th centile | <0.4th centile |
| Infantile hypotonia | + | + | + | + | − | − | − | N/A | + | - |
| Hypermobility | + | + | − | − | − | − | − | + | + | + |
| Hearing loss | Mixed | Sensorineural | Sensorineural (normal hearing at 2 years) | Sensorineural | − | − | Sensorineural | Sensorineural | Mixed (normal hearing until 3 years) | Conductive |
| Submucous cleft palate and bifid uvula | − | − | − | − | − | − | − | − | + | + |
| Haematuria | + | + | + | + | + | + | − | + | − | − |
| Nephrocalcinosis | − | − | − | − | − | − | − | − | + | + |
| Flattened nasal bridge | + | + | + | + | + | + | + | + | + | + |
| Midface hypoplasia | + | + | + | + | + | + | − | + | + | + |
| Digital abnormalities | Persistent fetal pads, increased space between index and middle fingers as well as first and second toes, second toe clinodactyly | Persistent fetal pads, increased space between index and middle fingers as well as first and second toes, second toe clinodactyly | Persistent fetal pads, metaphyseal dysostosis | Persistent fetal pads, metaphyseal dysostosis | − | − | Bilateral syndactyly of second and third toes and clinodactyly of second toes | Small hands and fingers, laxity of finger joints, flatfeet, bilateral sandal gaps | Square hands and fifth finger clinodactyly | Square hands and fifth finger clinodactyly |
| Ocular abnormalities | Myopia | Microstrabismus | − | − | Hyperopia and astigmatism | Hyperopia | – | – | – | Cataract, convergent squint |
| Speech and language delay | Receptive and expressive speech delay (measured at 5 years and 9 months, predicted age 2–3 and 1 years, respectively) | Developmental delay (less severe phenotype compared with brother (1)) | MR (measured at 8 years, patient functioning at the level of 5 years) | MR | Non-verbal at age 5Some sounds | Significant delay at age 2 | Started speech at age 3 years and 6 months | MR (measured at 4 years, patient functioning at level of 2 years) | Early delay, normal at age 4 | No words at 2 years, normal at age 5 |
| Delayed reading and writing ability | + | + | + | + | + | + | + | + | + | + |
| Elliptocytosis | + | + | − | − | − | − | − | − | − | − |
| Cardiac abnormalities | RBBB, PDA, non-stenotic bicuspid aortic valve, mild LV dilatation | Mild mitral and tricuspid regurgitation | − | − | − | − | − | − | Trivial tricuspid regurgitation, patent foremen ovale | − |
| Other | Umbilical and inguinal hernia | Umbilical and inguinal hernia | Craniopharyngioma | Craniopharyngioma | Mild motor delay, walked at 17 months, temper tantrums | Mild motor delay, walked at 17 months, temper tantrums | Pyloric stenosis, dental delay, motor delay (walked at 24 months) | Therapy-resistant epilepsy, moderate motor retardation (unsupported sitting at 9 months; unsupported walking at 18 months), subcortical heterotropia | Dental delay with first teeth at 21 months, mild–moderate gross motor delay with developmental catch up | N/A |
+, phenotype present; −, phenotype absent; LV, left ventricular; MR, mental retardation; N/A, missing phenotype data; PDA, patent ductus arteriosus; RBBB, right bundle branch block.