2016
DOI: 10.1038/leu.2016.256
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Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency

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Cited by 23 publications
(13 citation statements)
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“…These mutants appear to impact on disease subtypes (for example, MDS/AML and chronic myelomonocytic leukemia) and exhibit differences in age of onset. Recently, Ding et al 40 reported two cases of gR396Q mutation in patients who developed MDS at younger age, consistent with our data that it predisposes predominantly to MDS and with early onset. These data support the concept of genetic ‘predestination’ where initiator or founder mutations in a protein or even domain confer increased tendency to direct or constrain the impact of subsequent mutations and phenotypes.…”
Section: Discussionsupporting
confidence: 92%
“…These mutants appear to impact on disease subtypes (for example, MDS/AML and chronic myelomonocytic leukemia) and exhibit differences in age of onset. Recently, Ding et al 40 reported two cases of gR396Q mutation in patients who developed MDS at younger age, consistent with our data that it predisposes predominantly to MDS and with early onset. These data support the concept of genetic ‘predestination’ where initiator or founder mutations in a protein or even domain confer increased tendency to direct or constrain the impact of subsequent mutations and phenotypes.…”
Section: Discussionsupporting
confidence: 92%
“…Others have identified mutations in SETBP1, ASXL1, STAG2, RUNX1, CBL, EZH2, NRAS/KRAS, JAK3, and PTPN11 in a cohort of pediatric GATA2-related MDS cohort (Loyola VBP 2015). Fisher et al identified RUNX1, SETBP1, IKZF1 and CRLF2 variants in two pediatric GATA2-associated MDS cases (Fisher , et al 2017) Ding et al described a father-son pair with GATA2 germline mutation and MDS who both had STAG2 mutations, but in different genomic locations (Ding , et al 2017). Bodor et al described a patient with MDS, a somatic ASXL1 mutation and monosomy 7 with poor outcome (Bodor , et al 2012).…”
Section: Discussionmentioning
confidence: 99%
“…Recurrent mutations were identified in genes ASXL1 , SETBP1 , RUNX1 , STAG2 , CBL , EZH2 , NRAS, KRAS , JAK3 , PTPN11 . [ 51 , 54 , 58 , [96] , [97] , [98] , [99] , [100] ] Furthermore, single GATA2-MDS cases were reported with somatic mutations in IKZF1 , CRLF2 , HECW2 , GATA1 , GATA2 , ATRX , BRCA2 , GPRC5A , IDH2 , TP53 , WT1 [ 97 , 99 , 101 ].
Fig.
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Section: Gata2 Deficiencymentioning
confidence: 99%