Table 1 Summary of characteristics in PEX13 variant carriers of this study compared to those reported in literature
From: Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Main features | Individual A.II-3 | Individual B.II-1 | Individual C.II-3 | Individual C.II-2 | Individual D.II-3 | Individual E.II-1 | Shimozawa [5] | Shimozawa [27] | Krause [6] | Al-Dirbashi [7] | Al-Dirbashi [7] |
|---|---|---|---|---|---|---|---|---|---|---|---|
Gender | M | F | M | F | M | F | M | NA | F | M | M |
Ethnicity | Italian | Canadian | Iraqi | Iraqi | Iranian | Iranian | Caucasian | NA | Turkish | Saudi | Saudi |
Diagnosis | ZSD | ZSD | ZSD | ZSD | ZSD | ZSD | ZSD | mild NALD | ZSD | ZSD | ZSD |
PEX13 variant | |||||||||||
Allele 1 | p.Arg294Trp | p.Arg294Trp | p.Arg294Trp | p.Arg294Trp | p.Trp313Ter | p.Gly324Arg | p.Trp234Ter | p. Ile326Thr | p.Trp313Gly | 147-KB del | p.G36DfsTer.61 |
Allele 2 | p.Y192QfsTer.14 | p.Arg294Trp | partial deletion | partial deletion | p.Trp313Ter | p.Gly324Arg | p.Trp234Ter | p. Ile326Thr | p.Trp313Gly | 147-KB del | p.G36DfsTer.61 |
Psychomotor delay | − | + | − | − | + | + | + | NA | + | + | + |
Developmental regression | + | + | + | + | NA | NA | + | NA | NA | NA | NA |
Motor impairment | + | + | + | + | + | + | + | NA | + | + | + |
Intellectual disability | + | + | − | − | + | + | + | NA | − | + | + |
Language impairment | + | + | + | + | + | + | + | NA | − | NA | + |
Hearing loss | + | − | - | + | − | + | + | NA | − | − | − |
Visual deficit | + | − | − | − | − | + | + | NA | + | − | − |
Feeding difficulties | − | + | − | − | − | + | + | NA | − | + | + |
Hepatic dysfunction | − | − | − | − | − | − | − | NA | − | − | + |
Renal cysts | − | − | − | − | − | − | − | NA | − | − | + |
Scoliosis | − | − | + | − | − | − | − | NA | − | − | − |
Seizures | − | − | − | − | + | − | − | NA | − | + | + |
Deceased | − | − | − | − | + (20 m) | + (3 y) | − | NA | + (31 m) | + (6 w) | NA |
VLCFAs alterations | − | − | − | − | NA | NA | NA | NA | NA | + | + |
Muscle biopsy alteration | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
Brain MRI | |||||||||||
Cortical malformation | − | − | − | − | + | − | NA | NA | NA | + | NA |
White matter hyperintensity | + | + | + | + | − | + | NA | NA | NA | + | NA |
Thinning of the corpus callosum | + | NA | + | + | − | NA | NA | NA | NA | NA | NA |