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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