Novel
GATA1
SLC4A1
anemia
inherited platelet disorders
storage pool deficiency
thrombocytopenia
whole exome sequencing
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
29 09 2022
29 09 2022
Historique:
received:
03
09
2022
revised:
22
09
2022
accepted:
25
09
2022
entrez:
14
10
2022
pubmed:
15
10
2022
medline:
18
10
2022
Statut:
epublish
Résumé
Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities in platelet count and function. However, damaging variants closely located to the C-terminal zinc finger domain of GATA1 are nearly unknown. In this study, a 36-year-old male index patient and his 4-year-old daughter suffered from moderate mucocutaneous bleeding diathesis since birth. Whole exome sequencing detected a novel hemizygous
Identifiants
pubmed: 36231035
pii: cells11193071
doi: 10.3390/cells11193071
pmc: PMC9564339
pii:
doi:
Substances chimiques
Anion Exchange Protein 1, Erythrocyte
0
GATA1 Transcription Factor
0
GATA1 protein, human
0
SLC4A1 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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