Table 1 Summary of ACTB-AST mutations

From: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Patient

Genomic position (hg19)

cDNA (NM_001101.3)

Amino acid change

1, 2

chr7:g.[5567681A>C]

c.938T>G

p.(Met313Arg)

3b, 4a,b

chr7:g.[5567499_5567515del]

c.992_1008del

p.(Ala331Val_fs*27)

5a,b,c

chr7:g.[5567484_5567495del]

c.1012_1023del

p.(Ser338_Ile341del)

6

chr7:g.[5567406dup]

c.1101dup

p.(Ser368Leu_fs*13)

Nd

chr7:g.[5567417C>T]

c.1090G>A

p.(Glu364Lys)

  1. aAccess to primary dermal fibroblasts for cell-based assays and RNA-sequencing analysis
  2. bAccess to peripheral blood for megakaryocyte differentiation experiments and thrombocyte assessment
  3. cConsidered to be the most severely affected patient in this ACTB-AST cohort based on severe microcephaly, prominent facial features, and hematological anomalies
  4. dPatient described by Nunoi et al.25 and the only case where mutant β-CYA has been biochemically characterized38
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