Genotype–phenotype correlation for so far unpublished PEX1 alleles
| Patient | G, D | V, N | K, K | G, A | K, M |
|---|---|---|---|---|---|
| ND, not determined; −, not present; +, present. | |||||
| 1st allele | c.911_912delCT, S304CfsX4 | c.3287C→G, S1096X | c.3691_3694delCAGT, Q1231HfsX3 | c.274G→C, V92L | c.2083_2085delATG, M695del |
| 2nd allele | c.2387T→C, L796P | c.3038G→A, R1013H | c.3691_3694delCAGT, Q1231HfsX3 | c.274G→C, V92L | c.2083_2085delATG, M695del |
| Present age, age at death (years, months) (d) | 0, 5 | 0, 4 (d) | 0, 2 (d) | 1, 11 (d) | 0, 3 (d) |
| Clinical signs | |||||
| Dysmorphic features | |||||
| Large fontanelle, wide sutures | + | + | + | ND | + |
| High forehead | + | + | + | + | + |
| Broad nasal bridge | + | + | + | + | + |
| Hypertelorism | + | + | + | + | + |
| Epicanthus | + | − | + | − | + |
| External ear deformity | − | + | + | + | + |
| Sickle foot | − | + | + | + | + |
| Cerebral | |||||
| Poor sucking | + | + | + | + | + |
| Gavage feeding | − | + | + | − | + |
| Hypotonia | + | + | + | + | + |
| Severe psychomotor retardation | + | + | + | + | + |
| Seizures | − | + | + | − | + |
| Ocular | |||||
| Cataract | − | − | ND | − | ND |
| Retinitis pigmentosa | − | − | ND | − | ND |
| Optic atrophy | + | + | ND | − | ND |
| Nystagmus | − | − | ND | − | ND |
| Hepato-renal | |||||
| Hepatomegaly | − | − | + | − | + |
| Liver fibrosis | − | − | + | − | − |
| Raised liver enzymes | + | + | + | − | − |
| Renal cysts | + | − | + | ND | ND |
| Skeletal system | |||||
| Calcific stipling | ND | ND | ND | ND | + |