Patient | Gene | Transcript ID | Transcript variants | Protein variants | Zygosity | Related disorder | Inheritance | Reference for mutations |
---|---|---|---|---|---|---|---|---|
1 | RAB3GAP1 | NM_012233.2 | c.475_478delACTG | p.T159Afs*19 | Homozygous | Warburg Micro syndrome 1[MIM 600118] | AR | Aligianis et al., [26] |
4 | KIF11 | NM_004523.3 | c.1040dupT | p.S348Efs*8 | Heterozygous | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [MIM 152950] | AD | Current study |
6 | ASPM | NM_018136.4 | c.7781_7784delAGAA c.3168 + 1G > C | p. K2595Yfs*20 p.? | Compound heterozygous | Primary microcephaly 5 [MIM 608716] | AR | Current study |
8&9 | RTTN | NM_173630.3 | c.4186delC c.2594A > G | p.E1397Kfs*7 p.H865R | Compound heterozygous | Polymicrogyria with seizures [MIM 614833] | AR | Current study |
16 | ERCC8 | NM_000082.3 | c.295_297delinsTG | p.R99Sfs*26 | Homozygous | Cockayne syndrome type A [MIM 216400] | AR | Current study |
19 | CASK | NM_003688.3 | c.2302 + 2 T > G | p.? | Heterozygous | Mental retardation and microcephaly with pontine and cerebellar hypoplasia [MIM 300749] | XL | Current study |
23 | DYRK1A | NM_001396.3 | c.1433delT | p.F478Sfs*114 | Heterozygous | Autosomal dominant mental retardation 7 [MIM 614104] | AD | Current study |
24 | BRCA2 | NM_000059.3 | c.9672dupA | p.Tyr3225Ilefs*30 | Homozygous | Fanconi anemia, complementation group D1 [MIM 605724] | AR | Tea et al., [42] |
26 | RNASEH2B | NM_024570.3 | c.529G > A c.554 T > G | p.A177T p.V185G | Compound heterozygous | Aicardi-Goutières syndrome 2[MIM 610181] | AR | Crow et al., [24] |
32 | ASPM | NM_018136.4 | c.2389C > T c.2053dupA | p.R797* p.N688Kfs*5 | Compound heterozygous | Primary microcephaly 5 [MIM 608716] | AR | Passemard et al., [25] Current study |