Table 3

Genotyping of patients with unclassified inherited bone marrow failure syndromes

Clinical phenotypeNumber
tested
Number
genotyped
Genes mutatedNumber of patients with mutations in this geneMutation typeNumber of allelesDiagnosis based on this study
Unclassified—IBMFS with predominantly neutropenia143GATA2 (het)1Missense1Familial MDS
WAS (hemi)1Missense1SCN
G6PC3 (hom)1Indel/frameshift2SCN
Unclassified—IBMFS with bilineage or trilineage cytopenia60
Unclassified—IBMFS with bilineage or trilineage cytopenia539TERT (het)3Missense3DC
TERC (het)1ncRNA1DC
TINF2 (het)1Missense1DC
CXCR4 (het)1Missense1WHIM syndrome
RPL5 (het)1Indel/frameshift1DBA
MYH9 (het)1Missense1MYH9- related disorder
WAS (hemi)1Indel/inframe1WAS
SAA; no response to immunosuppressive therapy103RTEL1 (comb)1Missense2DC
TERT (Het)1Missense1DC
MASTL (het)1Splicing1MASTL-associated disorder
Total83151517
  • AD, autosomal dominant; AR, autosomal recessive; DBA, Diamond–Blackfan anaemia; DC, dyskeratosis congenita; eADA, adenosine deaminase; IBMFSs, inherited bone marrow failure syndromes; IgG, immunoglobulin G; IST, immunosuppressive therapy; MDS, myelodysplastic syndrome; SAA, severe aplastic anaemia; SCN, severe congenital neutropenia; TL, telomere length; WAS, Wiskott–Aldrich syndrome; WHIM, Warts–Hypogamaglobulinemia–Infection–Myelokathexis.