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Table 2 Established molecular diagnoses in patients with microcephaly using whole-exome sequencing

From: Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

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
  1. AR Autosomal recessive, AD Autosomal dominant, XL X-linked, MIM Mendelian inheritance in man number (http://omim.org)
  2. p.? = the predicted effect on the protein is unknown