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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Published on: August 15, 2019

GATA2 at 14: genotype-phenotype correlations.

Amy P Hsu¹, Subrata Paul², Jennifer L Kwan³

¹Laboratory of Clinical Immunology and Microbiology, NIAID/NIH, Bethesda, MD. twins@niaid.nih.gov.

|January 15, 2026

Summary

This summary is machine-generated.

GATA2 mutations lead to bone-marrow failure. Specific mutation types, like Truncation and Null alleles, cause earlier symptom onset and higher risks for myeloid malignancy.

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Area of Science:

Hematology
Genetics
Oncology

Background:

GATA2 mutations are a known cause of adult-onset bone-marrow failure.
These mutations are associated with cytopenias, infections, and an elevated risk of myeloid malignancy.

Purpose of the Study:

To investigate the correlation between different GATA2 mutation types and their impact on hematopoietic and syndromic features.
To determine if specific GATA2 mutation categories influence the age of symptom onset and risk of myeloid malignancy.

Main Methods:

Retrospective review of hospital records and referrals for 232 individuals from 122 families with GATA2 mutations.
Classification of mutations based on their effect on the GATA2 protein: C-terminal, Zinc-Finger 2 (ZF2) missense, Truncation, Null alleles, and Enhancer mutations.
Application of regression models to analyze symptom onset and hazard ratios (HR) across different mutation groups and specific ZF2 amino acid changes.

Main Results:

Earlier onset of symptoms and increased hazard ratios were observed for Truncation (13 years, HR 5.00), Null alleles (17 years, HR 3.60), and ZF2 mutations (22 years, HR 2.23) compared to Enhancer mutations.
Specific ZF2 mutations, R396 and T354, were associated with earlier onset (16 years, HR 2.96; 19 years, HR 2.16) compared to R398 (34 years).

Conclusions:

The type and location of GATA2 mutations significantly influence the clinical presentation, including the age of onset and associated risks.
Understanding these genotype-phenotype correlations is crucial for predicting disease progression and managing patients with GATA2-related bone-marrow failure syndromes.