GATA2 mutations screening is recommended prior to ... - CBMTG

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MonoMAC syndrome: frequent familial incidenceGenotype: T354 (Thr354, Thr354)T354M (Thre354, Met354)(Adapted from Hahn et al., Nature Genetics 2011)
Diagnostic test design:=> GATA2 mutation c.1186 CT (R396W)ZF1ZF2GATA2Ex1 Ex2 Ex3 Ex4 Ex5 Ex6a Ex6bcoding sequence covered by the testC / TPatientFrèreCBrotherNegativecontrolC+ External validation at Laboratory of Dr Scott in Australia
Page 1 and 2: GATA2 mutations screeningis recomme
Page 3 and 4: Abnormal Karyotype:47,XY,+1,der(1;7
Page 5 and 6: Unusual MDS presentationXGATA2( )=>
Page 7: Several GATA2 mutations are describ
Page 11 and 12: Patient is in partial second remiss
Page 13 and 14: Other important predisposing genesf
Page 15 and 16: CONCLUSIONS• Screening for GATA2-
Page 18 and 19: MDS with der(1;7)(q10;p10):is it di
Page 20 and 21: GATA2 mutations have been recently
Page 22 and 23: Mutation GATA2 c.1186 CT (R396W)Pat
Page 24 and 25: What about silent carriers?Anticipa
Page 26 and 27: Functional consequences of GATA2 mu

GATA2 mutations screening is recommended prior to ... - CBMTG

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