Open AccessTwo Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome
Author(s) -
Kanokporn Chukua,
Chayat Netsawang,
Kittipoom Padungthai,
Thanitchet Khetkham,
Piyaporn Chokevittaya,
Onapinya Poonjearansilp,
Sariya Prachuktum,
Sudatip Kositamongkol,
Wiliporn Techasatit,
Phakatip Silapamongkolkul,
Wallee Satayasai,
Tasama Pusongchai,
Pacharapan Surapolchai,
Kitiwan Rojnueangnit
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1696971
Subject(s) - frameshift mutation , gata1 , myelopoiesis , mutation , down syndrome , gene duplication , cancer research , medicine , genetics , biology , haematopoiesis , gene , stem cell
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.