PMID- 30950017
OWN - NLM
STAT- MEDLINE
DCOM- 20190820
LR  - 20190820
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 4
DP  - 2019 Apr 10
TI  - [Clinical and laboratory analysis of a neonate with Down syndrome and a novel 
      GATA1 gene mutation].
PG  - 322-326
LID - 10.3760/cma.j.issn.1003-9406.2019.04.008 [doi]
AB  - OBJECTIVE: To analyze the clinical and molecular biological characteristics of a 
      neonate with myeloid proliferation related to Down syndrome (DS). METHODS: The 
      neonate, who was suspected for Down syndrome, was analyzed in terms of clinical 
      feature, peripheral blood cell morphology, fluorescence in situ hybridization 
      (FISH), immunological classification and other laboratory tests. On hundred and 
      fourteen leukemia-related genes were subjected to next-generation sequencing 
      (NGS). RESULTS: Laboratory test revealed obvious abnormal liver function and 
      coagulation function, anemia, and extreme leukocytosis. Cell smear indicated 
      significantly increased progenitor cells, which conformed to proliferation of 
      megakaryocytes. FISH showed trisomy 21. By NGS, c.220+dupT, a novel mutation, was 
      identified in exon 2 of the GATA1 gene, which encodes a N-terminal activation 
      domain and has a frequency of 95.8%. No mutation was identified among the 
      remaining 113 genes. CONCLUSION: The neonate had DS and GATA1 gene mutation. High 
      percentage of circulating blasts should be considered as transient myelodysplasia 
      but not congenital leukemia.
FAU - Zheng, Rui
AU  - Zheng R
AD  - Central Laboratory, Taizhou Hospital, Linhai, Zhejiang 317000, China. Email: 
      linaf@enzemed.com.
FAU - Zhang, Weiqing
AU  - Zhang W
AD  - Department of Nephrology, Taizhou Hospital, Linhai, Zhejiang 317000, China.
FAU - Chen, Baoguo
AU  - Chen B
AD  - Central Laboratory, Taizhou Hospital, Linhai, Zhejiang 317000, China. Email: 
      linaf@enzemed.com.
FAU - Shen, Zhiying
AU  - Shen Z
AD  - Central Laboratory, Taizhou Hospital, Linhai, Zhejiang 317000, China. Email: 
      linaf@enzemed.com.
FAU - Lin, Aifen
AU  - Lin A
AD  - Center of Bioresource, Taizhou Hospital, Linhai, Zhejiang 317000, China.
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - 0 (GATA1 Transcription Factor)
RN  - 0 (GATA1 protein, human)
MH  - *Down Syndrome/genetics
MH  - GATA1 Transcription Factor/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Mutation
MH  - Trisomy
EDAT- 2019/04/06 06:00
MHDA- 2019/08/21 06:00
CRDT- 2019/04/06 06:00
PHST- 2019/04/06 06:00 [entrez]
PHST- 2019/04/06 06:00 [pubmed]
PHST- 2019/08/21 06:00 [medline]
AID - 940636063 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.04.008 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):322-326. doi: 
      10.3760/cma.j.issn.1003-9406.2019.04.008.