Figure 1.
Figure 2.
Figure 3.
Clinical and Genetic Findings in Reported MEDS1 Cases and Current Case
| Article | Poulton et al 2011 | Abdeslam et al 2012 | Shalev et al 2013 | Valenzuela et al 2017 | Rjiba et al 2021 | Söbü et al 2022 | Zegarra et al 2023 | Current report | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 |
| Parental origin | Morocco | Argentina | Egypt | Egypt | Egypt | Egypt | Libya-Tangier Colombia | Spain | Tunisia | Turkey | NR | Northern Moroccp |
| Consanguinity | + | Presumed | + | + | + | + | − | − | + | + | − | − |
| Sex | M | M | M | F | F | F | M | M | M | M | F | M |
| Diabetes onset | 2 mo | At birth | <1 wk | 2 mo | 40 days | 2 wk | 2 mo | 5 wk | 2 mo | 18 mo | 4 mo | 3 mo |
| Epilepsy onset | 2 mo | 2 mo | Few days of life | 2 mo | At birth | 2 mo | 2 mo | NR | 2 mo | 2 mo | 2 mo | 1 mo |
| Microcephaly | + | + | + | + | + | + | + | + | + | + | + | + |
| Dysmorphic features | NR | NR | + | + | + | + | + | + | + | + | NR | + |
| Skeletal manifestations | NR | NR | + | + | + | + | NR | − | − | NR | NR | − |
| Abnormal genitalia | Hypogonadism | − | − | − | − | − | Retractile testes/normal genitalia | − | Small genitalia/unilateral cryptorchidism | − | − | − |
| Age of death | 1 y 5 mo | 2 y 3 mo | 5 y 5 mo | 2 y 3 mo | 3 y 5 mo | NR | 8 y | 7 weeks | 1 y | NR | NR | 1 y 3 mo |
| IER3IP1 Variants | p.Val21Gly | p.Leu78Pro | p.Leu78Pro | p.Leu78Pro | p.Leu78Pro | p.Leu78Pro | p.Val21Gly)/p.phe27fsSer*25 | p.Leu78Pro | p.Val21Gly | p.Ala18Val | p.Leu80*)/c2T>A(initiator codon) | p.Val21Gly/p.Leu79Ter |
| Variant status | Homozygus | Homozygus | Homozygus | Homozygus | Homozygus | Homozygus | Compound hoterozygous | Homozygus | Homozygus | Homozygus | HomozygusCompound hoterozygous | Compound hoterozygous |