J Pediatr Genet 2019; 08(04): 187-192
DOI: 10.1055/s-0039-1696971
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome

Kanokporn Chukua
1  Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Chayanont Netsawang
1  Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Kittipoom Padungthai
1  Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Thanitchet Khetkham
2  Divison of Forensic Medicine, Thammasat University Hospital, Pathum Thani, Thailand
,
Piyaporn Chokevittaya
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Onapinya Poonjearansilp
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Sariya Prachuktum
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Sudatip Kositamongkol
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Wiliporn Techasatit
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Phakatip Silapamongkolkul
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Wallee Satayasai
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Tasama Pusongchai
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Pacharapan Surapolchai
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
,
Kitiwan Rojnueangnit
3  Department of Pediatrics, Division of Genetics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand
› Author Affiliations
Further Information

Publication History

16 March 2019

01 August 2019

Publication Date:
11 September 2019 (online)

Abstract

Children with Down syndrome (DS) are 150 times more likely to develop acute myeloid leukemia (ML-DS), compared with those without. One risk factor is transient abnormal myelopoiesis (TAM). Somatic truncating GATA1 mutations are found in most TAM patients and are markers for future ML-DS. We identified two novel frameshift mutations in our seven newborns with DS and TAM: a heterozygous mutation of 17 nucleotide duplication (c.154_170 dup) and a heterozygous 9-nucleotide deletion combined with a 2-nucleotide insertion (c.150_158delins CT). Both mutations introduced a truncated GATA1 protein. Thus, neonates with DS and TAM require frequent ML-DS monitoring.

Authors' Contributions

K.C., C.N., and K.P. performed genetic testing and wrote the manuscript; T.K. supervised genetic testing; P.C. and O.P. reviewed clinical data and wrote manuscript; S.P., S.K., W.T., P.S., W.S., and T.P. were attending physicians; P.S. was an attending physician, supervised, reviewed clinical data, and edited manuscript; K.R. designed the study, supervised genetic tests, wrote and edited manuscript.


Supplementary Material